Term
| At which end of the tRNA is the aa bound? |
|
Definition
The amino acid is covalently
bound to the 3' end of the tRNA. |
|
|
Term
| Can RNA polymerase initiate chains? |
|
Definition
|
|
Term
|
Definition
Substituting purine for purine
or pyrimidine for pyrimidine. |
|
|
Term
|
Definition
Substituting purine for
pyrimidine or vice versa. |
|
|
Term
|
Definition
| Accurate base pairing is required only in the first 2 nucleotide positions of an mRNA codon, so codons differing in the 3rd 'wobble' position may code for the same tRNA/amino acid. |
|
|
Term
| Describe DNA replication. |
|
Definition
| Origin of replication: continuous DNA synthesis on leading strand and discontinuous (Okazaki fragments) on lagging strand. Primase makes an RNA primer on which DNA polymerase can initiate replication. DNA polymerase reaches primer of preceding fragment; 5'®3' exonuclease activity of DNA polymerase I degrades RNA primer; DNA ligase seals; 3'->5' exonuclease activity of DNA polymerase 'proofreads' each added nucleotide. DNA topoisomerases create a nick in the helix to relieve supercoils. |
|
|
Term
|
Definition
Less condensed (vs.
Heterochromatin), transcriptionally active. |
|
|
Term
|
Definition
Condensed, transcriptionally
inactive |
|
|
Term
Describe key structural
differences between nucleotides. |
|
Definition
1)Purines (A,G) have 2 rings.
2)Pyrimidines (C,T,U) have 1 ring
3) Guanine has a ketone.
4) Thymine has a methyl |
|
|
Term
| Describe single-strand, excision repair. |
|
Definition
Excision repair-specific glycosylase recognizes and removes damaged base. Endonuclease makes a break several bases to the 5' side.
Exonuclease removes short stretch of nucleotides.
DNA polymerase fills gap.
DNA ligase seals. |
|
|
Term
| Describe the difference between Eukaryotic Vs. Bacterial, viral and plasmid origin of replications |
|
Definition
| Eukaryotic genome has multiple origins of replication. Bacteria, viruses and plasmids have only one origin of replication. |
|
|
Term
| Describe the main difference in eukaryotic and prokaryotic synthesis of RNA. |
|
Definition
| Eukaryotes have 3 different RNA polymerases ('I, II, III synthesize RMT') and prokaryotes have 1 RNA polymerase (which makes all 3 kinds of RNA). |
|
|
Term
| Describe the method by which introns are removed from primary mRNA transcript. |
|
Definition
Introns are precisely spliced out of primary mRNA transcripts. A lariat-shaped intermediate is formed. Small nuclear ribonucleoprotein particles (snRNP) facilitate splicing by binding to primary mRNA transcripts and forming
spliceosomes. |
|
|
Term
| Describe the number of bonds per purine-pyrimidine pair. Which is stronger? |
|
Definition
| G-C bond (3 H-bonds) A-T bond (2 H-bonds G-C bond is stronger |
|
|
Term
| Describe the structure of Chromatin. |
|
Definition
| Condensed by (-) charged DNA looped around (+)charged histones(nucleosome bead). H1 ties the nucleosome together in a string (30 nm fiber) |
|
|
Term
|
Definition
75-90 nucleotides, cloverleaf form, anticodon end is opposite 3' aminoacyl end. All tRNAs both eukaryotic and prokaryotic, have CCA at 3' end along with a high percentage of chemically
modified bases. The amino acid is covalently bound to the 3' end of the tRNA. |
|
|
Term
| Does RNA polymerase have a proof reading function? |
|
Definition
|
|
Term
| How do purines and pyrimidines interact, molecularly? |
|
Definition
| Purines and pyrimidines pair (A-T, G-C) via H-bonds |
|
|
Term
| How does RNA polymerase II open DNA? |
|
Definition
RNA polymerase II opens DNA at promoter site (A-T rich upstream sequence- TATA
and CAAT) |
|
|
Term
| How is the original RNA transcript processed in eukaryotes? (3) |
|
Definition
1)Capping on 5' end (7- methyl G)
2)Polyadenylation on 3' end ( =200 As)
3)Splicing out of introns |
|
|
Term
In eukaryotes, what must
occur before an newly synthesized RNA transcript leaves the nucleus? |
|
Definition
| Only processed RNA is transported out the nucleus of eukaryotes. |
|
|
Term
|
Definition
|
|
Term
Name the charged histones around which (-) charged DNA loops (nucleosome
core). |
|
Definition
| H2A, H2B, H3, H4 histones |
|
|
Term
| Name the enzyme responsible for the synthesis of RNA in prokaryotes. |
|
Definition
|
|
Term
| Name the enzymes involved in ss-DNA repair. (5) |
|
Definition
1) specific glycosylase.
2) endonuclease.
3) exonuclease.
4) DNA polymerase.
5) DNA ligase. |
|
|
Term
| Name the enzymes responsible for the synthesis of eukaryotic RNA. |
|
Definition
RNA polymerase I
RNA polymerase II
RNA polymerase III |
|
|
Term
|
Definition
| Exons contain the actual genetic information coding for a protein |
|
|
Term
| What are four types of mutations that can occur in DNA? |
|
Definition
1) Silent
2) Missense
3) Nonsense
4) Frame shift |
|
|
Term
|
Definition
| Introns are intervening noncoding segments of DNA |
|
|
Term
| What are the four features of the Genetic Code? |
|
Definition
1) Unambiguous
2) Degenerate
3) Commaless, non-overlapping
4)Universal |
|
|
Term
| What atoms link aa in a protein chain? |
|
Definition
| Amino acids are linked N to C |
|
|
Term
| What changes occur in DNA structure during mitosis? |
|
Definition
| In mitosis, DNA condenses to form mitotic chromosomes |
|
|
Term
| What codon sequence is found at the 3' end of all tRNAs? |
|
Definition
| All tRNAs, both eukaryotic and prokaryotic, have CCA at 3' end. |
|
|
Term
| What direction is DNA synthesized in? |
|
Definition
5' --> 3'.
Remember that the 5' of the incoming nucleotide bears the triphosphate (energy source for the bond).
The 3' hydroxyl of the nascent chain is the target. |
|
|
Term
| What direction is protein synthesized in? |
|
Definition
| Protein synthesis also proceed in the 5' to 3' |
|
|
Term
| What direction is RNA synthesized in? |
|
Definition
5' --> 3'.
Remember that the 5' of the incoming nucleotide bears the triphosphate(energy source for the bond).
The 3' hydroxyl of the nascent chain is the target. |
|
|
Term
| What does the AUG mRNA sequence code for? |
|
Definition
| AUG codes for methionin, which may be removed before translation is completed. In prokaryotes the initial AUG codes for a formyl-methionin(f-met). |
|
|
Term
| What does the P in P-site stand for? What does the A in A-site stand for? |
|
Definition
P-site: peptidyl;
A-site: aminoacyl; |
|
|
Term
| What does the statement, 'the genetic code is 'commaless' mean? What is the exception to this rule? |
|
Definition
The code is non-overlapping.
The exception are some viruses. |
|
|
Term
| What does the statement, 'the genetic code is degenerate' mean? |
|
Definition
| More than one codon may code for the same amino acid |
|
|
Term
| What does the statement, 'the genetic code is unambiguous' mean? |
|
Definition
| Each codon specifies only one amino acid |
|
|
Term
What does the statement, 'the
genetic code is 'universal' mean? What are the exceptions (4)? |
|
Definition
The same code is used in all lifeforms. The exceptions are;
1. mitochondria,
2. archaeobacteria,
3. Mycoplasma,
4. some yeasts |
|
|
Term
| What enzyme is responsible for 'charging' tRNA? How does it work? |
|
Definition
Aminoacyl-tRNA synthetase.
This enzyme (one per aa, uses
ATP) scrutinizes aa before and after it binds to tRNA. If incorrect, bond is hydrolyzed by synthetase. The aa-tRNA bond has energy for formation of peptide bond. |
|
|
Term
| What inhibits RNA polymerase II? |
|
Definition
| alpha-amanitin inhibits RNA polymerase II |
|
|
Term
| What is a conservative missense mutation? |
|
Definition
| Mutation results in a different aa encoded, but that new aa is similar in chemical structure to the original code |
|
|
Term
| What is a frameshift mutation? What is usually the effect on the encoded protein? |
|
Definition
| A change in DNA resulting in misreading of all nucleotides downstream. Usually results in a truncated protein. |
|
|
Term
| What is a missense mutation? |
|
Definition
| Mutation results in a different aa encoded. |
|
|
Term
| What is a nonsense mutation? |
|
Definition
| A change in DNA resulting in an early stop codon. |
|
|
Term
|
Definition
| Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus. |
|
|
Term
| What is a nonsense mutation? |
|
Definition
| A change in DNA resulting in an early stop codon. |
|
|
Term
What is a silent mutation?
What usually causes a silent mutation? |
|
Definition
| Mutation resulting in the same aa encoded. Often the base change is in the 3rd position of the codon. |
|
|
Term
What is a snRNP?
What is its function? |
|
Definition
| snRNP = small nuclear ribonucleoprotein. snRNPs facilitate splicing by binding to primary mRNA transcripts and forming spliceosomes. |
|
|
Term
|
Definition
| Stretch of DNA that alters gene expression by binding transcription facts. May be located close to, far from, or even within (an intron) the gene whose expression it regulates. |
|
|
Term
| What is an Okazaki fragment? |
|
Definition
| The discontinuous DNA synthesized on the lagging strand during DNA replication |
|
|
Term
|
Definition
hnRNA = heterogeneous nuclear RNA
The initial RNA transcript is called hnRNA |
|
|
Term
| What is responsible for the accuracy of amino acid selection during peptide synthesis? |
|
Definition
| Aminoacyl-tRNA synthetase and binding of charged tRNA to the codon are responsible for accuracy of amino acid selection. |
|
|
Term
| What is the broad classification of nucleotides? (2) |
|
Definition
| Purines (A, G) and Pyrimidines (C, T, U) |
|
|
Term
| What is the difference between hnRNA and mRNA? |
|
Definition
hnRNA = the initial RNA transcript
mRNA = capped and tailed transcript |
|
|
Term
| What is the difference between thymine and uracil? |
|
Definition
| Uracil found in RNA Thymine found in DNA |
|
|
Term
| What is the function of DNA ligase during DNA Replication? |
|
Definition
| DNA ligase seals synthesized DNA into a continuous strand |
|
|
Term
| What is the function of DNA polymerase during DNA Replication? (2) |
|
Definition
| 5'®3' exonuclease activity of DNA polymerase I degrades RNA primer; 3'®5'exonuclease activity of DNA polymerase 'proofreads' each added nucleotide. |
|
|
Term
| What is the function of DNA topoisomerase during DNA Replication? |
|
Definition
| DNA topoisomerases create a nick in the helix to relieve supercoils |
|
|
Term
| What is the function of primase in DNA Replication? |
|
Definition
| Primase makes an RNA primer on which DNA polymerase can initiate replication. |
|
|
Term
| What is the function of RNA polymerase I? |
|
Definition
| RNA polymerase I makes rRNA |
|
|
Term
| What is the function of RNA polymerase II? |
|
Definition
| RNA polymerase II makes mRNA |
|
|
Term
| What is the function of RNA polymerase III? |
|
Definition
| RNA polymerase III makes tRNA |
|
|
Term
| What is the mRNA initiation codon? |
|
Definition
|
|
Term
| What is the mRNA stop codons? (3) |
|
Definition
UGA (U Go Away)
UAA (U Are Away)
UAG (U Are Gone) |
|
|
Term
| What is the result of 'mischarged' tRNA? |
|
Definition
| A mischarged tRNA (bound to wrong aa) reads usual codon but inserts wrong amino acid. |
|
|
Term
| What is the role of endonuclease in ss-DNA repair? |
|
Definition
| Endonuclease makes a break several bases to the 5' side. |
|
|
Term
| What is the role of excision repair-specific glycosylase in ss-DNA repair? |
|
Definition
| Recognizes and removes damaged base. |
|
|
Term
| What is the role of exonuclease in ss-DNA repair? |
|
Definition
| Exonuclease removes short stretch of nucleotides. |
|
|
Term
| What prevents an incorrect aa-tRNA pairing? |
|
Definition
| If incorrect, the aa-tRNA bond is hydrolyzed by aminoacyl-tRNA synthetase. |
|
|
Term
| What prevents an incorrect aa-tRNA pairing? |
|
Definition
| If incorrect, the aa-tRNA bond is hydrolyzed by aminoacyl-tRNA synthetase. |
|
|
Term
| What role does histone H1 play in chromatin structure? |
|
Definition
| H1 ties the nucleosome together in a string (30nm fiber) |
|
|
Term
| What supplies the energy for formation of peptide bond? |
|
Definition
| The aa-tRNA bond has energy for formation of peptide bond. |
|
|
Term
| What would most likely be the result of a mutation of the promoter sequence? |
|
Definition
| Promoter mutation commonly results in dramatic decrease in amount of gene transcribed. |
|
|
Term
| When is ATP used in protein synthesis? When is GTP used in protein synthesis? |
|
Definition
| ATP is used in tRNA charging, whereas GTP is used in binding of tRNA ribosome and for translocations. |
|
|
Term
| When is recombination involved in DNA repair? |
|
Definition
| If both strands are damaged, repair may proceed via recombination with undamaged homologous chromosome. |
|
|
Term
| When is recombination involved in DNA repair? |
|
Definition
| If both strands are damaged, repair may proceed via recombination with undamaged homologous chromosome. |
|
|
Term
| Where does RNA processing occur in eukaryotes? |
|
Definition
| RNA processing occurs in the nucleus. |
|
|
Term
| Which is the largest type of RNA? |
|
Definition
|
|
Term
| Which is the most abundant type of RNA? |
|
Definition
|
|
Term
| Which is the smallest type of RNA? |
|
Definition
|
|
Term
| Which nucleotide position in the codon has room for 'wobble'? |
|
Definition
| Codons differing in the 3rd 'wobble' position may code for the same tRNA/amino acid |
|
|
Term
| How do you do a Northern Blot? |
|
Definition
| Electrophorese RNA on a gel transfer to a filter expose filter to a labeled DNA probe visualize the DNA probe annealed to the desired RNA. |
|
|
Term
| How do you do a Southern Blot? |
|
Definition
| Electrophorese DNA on a gel transfer to a filter and denature the DNA expose to a labeled DNA probe visualize probe annealed to desired DNA fragment |
|
|
Term
| How do you do a Southwestern blot? |
|
Definition
| Separate protein by electrophoresis transfer to a filter expose to a labeled DNA probe visualize DNA bound to desired protein |
|
|
Term
| How do you do a Western Blot? |
|
Definition
| Separate protein by electrophoresis transfer to a filter expose to a labeled antibody visualize Ab bound to desired protein |
|
|
Term
| How do you do PCR? (4 steps) |
|
Definition
1. Heat DNA to denature.
2. Cool DNA and let the primers aneal.
3. Heat-stable polymerase replicates DNA following each primer
4. Repeat |
|
|
Term
| What are some genetic diseases detectable by PCR? (11) |
|
Definition
| SCID, Lesh-Nyhan, CF, familial hypercholesterolemia retinoblastoma, sickle cell, Bthalassemia, hemophilia A and B, von Willebrand's dz, lysosomal dz, and glycogen storage dz |
|
|
Term
| What gene is involved in cystic fibrosis? |
|
Definition
|
|
Term
| What gene is involved in familial hypercholesterolemia? |
|
Definition
|
|
Term
| What gene is involved in Lesh-Nyhan syndrome? |
|
Definition
|
|
Term
| What gene is involved in retinoblastoma? |
|
Definition
|
|
Term
| What gene/enz is involved in SCID? |
|
Definition
|
|
Term
| What gene is involved in Sickle cell and ?-thal? |
|
Definition
|
|
Term
| What gene is involved in Sickle cell and ?-thal? |
|
Definition
|
|
Term
| What is an ELISA (enzyme linked immunosorbant assay)? |
|
Definition
| Rapid lab test in which an antibody or an antigen (usually collected from a patient) is exposed to an Ag or Ab liked to to an enzyme. A positive test results in a Ag-Ab match and is usually indicated by a color change |
|
|
Term
|
Definition
| Lab procedure used to synthsize many copies of a desired fragment of DNA |
|
|
Term
| Von Geirke's disease is a result of? |
|
Definition
| Glucose-6-phosphatase deficiency; also known as Type I Glycogen Storage disease |
|
|
Term
| A build up of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells and tissues is found in what disease? |
|
Definition
|
|
Term
| A child is born with multiple fractures and blue sclera what is the diagnosis? |
|
Definition
| Osteogenesis imperfecta; disease of abnormal collagen synthesis resulting in fractures and translucent conn tiss over chorioid causing the blue sclera |
|
|
Term
| A congenital deficiency of tyrosinase would lead to |
|
Definition
Albinism, now can't synthesize
melanin from tyrosine |
|
|
Term
| A patient presents with cataracts, hepatosplenomegaly, and mental retardation, what is the Dx? |
|
Definition
|
|
Term
| A patient presents with corneal clouding and mental retardation that is, based on family history, inherited in an Autosomal Recessive pattern, you impress your intern with a Dx of |
|
Definition
|
|
Term
| A patient presents with 1.Hyperextensible skin 2.Tendency to bleed 3.Hypermobile joints, you astutely Dx them with |
|
Definition
|
|
Term
| Absence of Galactosylceramide Betagalactosidase leads to the build up of what compound in what disease |
|
Definition
| accumulation of galactocerebroside in the brain; Krabbe's disease |
|
|
Term
| Absence of hexosaminidase A results in the accumulation of what molecule that is characteristic of what disease |
|
Definition
| GM2-ganglioside accumulation; Tay-Sachs disease |
|
|
Term
| Albinism increase risk of developing what |
|
Definition
|
|
Term
| Autosomal dominant defects will effect what members of a family |
|
Definition
|
|
Term
| Autosomal recessive disorders often result in what kind of defect/deficiencie? |
|
Definition
|
|
Term
| Autosomal recessive disorders usually effect how many generations in a family? |
|
Definition
| usually only one generation |
|
|
Term
| Bloom's syndrome is characterized by sensitivity to what as a result of |
|
Definition
| sensitivity to radiation as a result of a DNA repair defect |
|
|
Term
| Creatine and Urea are both made from? |
|
Definition
|
|
Term
| Defects in structural genes often follow what pattern of inheritance? |
|
Definition
|
|
Term
| Defiency of arylsulfatase A results in the accumulation of what molecule where |
|
Definition
| sulfatide in the brain, kidney, liver, and peripheral nerves. Characteristic of Metachromatic Leukodystrophy |
|
|
Term
| define genetic imprinting |
|
Definition
| when differences in phenotype depend on whether the mutation is of paternal or maternal origin |
|
|
Term
| define incomplete penetrance |
|
Definition
| when not all individuals with a mutant genotype show the mutant phenotype |
|
|
Term
| define Linkage Disequilibrium |
|
Definition
| the tendency for certain alleles at two linked loci to occur together more often than expected by chance, as measured in a population |
|
|
Term
|
Definition
| one gene has more than one effect on an individual's phenotype, autosomal dominant defects are often pleiotropic |
|
|
Term
| Define variable expression |
|
Definition
| nature and severity of the phenotype varies from one individual to another |
|
|
Term
| Fanconi's anemia is caused by what type of agents |
|
Definition
|
|
Term
| Ganglioside is made up of what |
|
Definition
| Ceramide + oligosacharide + sialic acid |
|
|
Term
| Gaucher's disease is caused by a deficiency of |
|
Definition
|
|
Term
| Glucocerebroside accumulation in the brain, liver, spleen, and bone marrow are characteristic of |
|
Definition
|
|
Term
| Hglycine is used to make what important compound |
|
Definition
| Porphyrin which is then used to make Heme |
|
|
Term
| Histamine is synthesized form what compound |
|
Definition
|
|
Term
| How does adenosine deaminase defiency cause SCID |
|
Definition
| Purine salvage pathway. ADA normal converts adenosine to inosine without it ATP & dATP build up inhibiting ribonucleotide reductase which prevents DNA synthesis lowering lymphocyte production |
|
|
Term
| How does adenosine deaminase defiency cause SCID |
|
Definition
| Purine salvage pathway. ADA normal converts adenosine to inosine without it ATP & dATP build up inhibiting ribonucleotide reductase which prevents DNA synthesis lowering lymphocyte production |
|
|
Term
| How is Lesch-Nyhan syndrome inherited and what is the result and symptoms |
|
Definition
X-linked recessive; increase in uric acid production.
Retardation, self mutalation, aggression, hyperuricemia, gout, and choreathetosis |
|
|
Term
| Hunter's syndrome is characterised by what biochemical problem and how is it inherited? |
|
Definition
| deficiency of iduronate sulfatase; X-linked recessive mild form of Hurler's |
|
|
Term
| In ataxia-telangiectasia DNA damage caused by what source cannot be repaired |
|
Definition
|
|
Term
| in G6PD deficiency the decrease in NADPH can lead to _____ if exposed to _____ |
|
Definition
| hemolytic anemia; oxidizing agents ( fava beans, sulfonamides, primaquine) and antituberculosis |
|
|
Term
| In PKU what builds up and what can be found in the urine? |
|
Definition
| phenyalanine builds up leading to phenylketones in the urine |
|
|
Term
| In PKU, what amino acid becomes essential |
|
Definition
|
|
Term
| in the Hardy-Weinberg equation, what are the p and q and what is 2pq |
|
Definition
| p and q are each separate alleles; 2pq = heterozygote |
|
|
Term
| no male to male transmission is characteristic of what type of genetic disorders? |
|
Definition
|
|
Term
| Pompe's disease is caused by a defect in? |
|
Definition
| lysosomal alpha-1,4-glucosidase deficency |
|
|
Term
| Sickle cell anemia is caused by what defect and what is it's prevalence? |
|
Definition
| AR single missense mutation in the beta globin; 1:400 blacks |
|
|
Term
| Sickle cell anemia patients often present with |
|
Definition
| recurrent painful crisis and increased susceptibility to infections |
|
|
Term
| Skin sensitivity to UV light secondary to a DNA repair defect is characteristic of what? |
|
Definition
|
|
Term
| Sphingosine + fatty acid yields |
|
Definition
|
|
Term
| the COL1A gene mutation is associated with what disease and what type of mutation is this |
|
Definition
| Osteogenesis imperfecta;dominant negitive mutation |
|
|
Term
| The main defect in Ataxiatelangiectasia is a ___ |
|
Definition
|
|
Term
| The most common form of Osteogenesis imperfecta has what genetic problem and inheritance |
|
Definition
| abnormal Collagen Type I synthesis; Autosomal dominant |
|
|
Term
| the transporter for what amino acids is defective in cystinuria |
|
Definition
| COLA: Cys,Ornithine, Lysine and Arginine |
|
|
Term
| Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side? |
|
Definition
|
|
Term
| Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side? |
|
Definition
|
|
Term
| Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side? |
|
Definition
|
|
Term
| Thymidine dimers are formed by exposure of DNA to UV light, are the dimers formed on the opposing strands of a DNA molecule or on the same side? |
|
Definition
|
|
Term
| Tryptophan can be used to make what three chemicals |
|
Definition
| Niacin, Serotonin, melatonin |
|
|
Term
| Type III Glycogen storage disease is a deficency of ? |
|
Definition
| deficiency of debranching enzyme alpha-1,6-glucosidase |
|
|
Term
| What is the cause Tx and symptoms of Lactase intolerance? |
|
Definition
| Lactase deficency; avoid diary products or add lactase pills to diet symptoms bloating, cramps, osmotic diarrhea |
|
|
Term
| What % of kids born to father with mitochondrial myopathy will be effected |
|
Definition
| none! mitochondrial myopathies are inherited from mitochondria which is only inherited from the mother |
|
|
Term
| What are the clinical signs of Krabbe's disease? |
|
Definition
| optic atrophy, spasticity, early death |
|
|
Term
| What are the components of Cerebroside? |
|
Definition
| Ceramide + glucose/galactose |
|
|
Term
| What are the components of Sphingomyelin? |
|
Definition
| Ceramide + phosphorylcholine |
|
|
Term
| What are the components of sphingosine? |
|
Definition
|
|
Term
| What are the findings and treatment of pyruvate dehydrogenase defic? |
|
Definition
neurologic defects; increase
intake of ketogenic nutrients |
|
|
Term
What are the findings in
McArdles's disease and what is the problem? |
|
Definition
| increased glycogen in skeletal muscle due to a Glycogen phosphorylase deficency strenuous exercise cause myoglobinuria and painful cramps |
|
|
Term
| What are the findings in PKU and what is the treatment? |
|
Definition
| Mental retardation, fair skin, eczema, musty body odor Tx. Decrease phenylalanin (nutrasweet) and increase tyrosine |
|
|
Term
| What are the findings in Pompe's disease and what is it alternate name? |
|
Definition
| Cardiomegaly and systemic findings, leading to early death. Pompe's trashes the Pump. (Heart, Liver and muscle) Type II Glycogen storage disease |
|
|
Term
| What are the findings in Von Gierke's disease? |
|
Definition
| severe fasting hypoglycemia, increased glycogen in the liver |
|
|
Term
| What are the four assumptions of the Hardy-Weinberg equilibrium? |
|
Definition
1.There's no mutation occurring at locus
2. There's no selection for any of genotypes at locus
3. Random mating
4. No migration in or out |
|
|
Term
| What are the purely ketogenic amino acids? |
|
Definition
|
|
Term
| What are the signs and symptoms of essential fructosuria? |
|
Definition
| asymptomatic, benign; Fructose appears in blood and urine |
|
|
Term
| what are the signs and symptoms of Homocystinuria? |
|
Definition
| Homocysteine accumulates in urine and cystine becomes essential. Methionine and it's metabolites build up in blood. Mental retardation, osteoporosis, dislocation of the lens |
|
|
Term
| What are the symptoms of Alkaptonuria? |
|
Definition
Dark Urine from alkapton bodies; also connective tissue is dark, may have arthralgias.
Bengin disease |
|
|
Term
| What are the symptoms of Fructose intolerance? |
|
Definition
| hypoglycmeia, jaundice, cirrhosis |
|
|
Term
| What are the symptoms of Maple syrup Urine disease? |
|
Definition
| CNS defects, mental retardation and death. Urine smells like maple syrup |
|
|
Term
| What biological chemicals are derived form phenylalanine? |
|
Definition
| tyrosine; thyroxine, Dopa; dopamine NE, Epinephrine and Melanin |
|
|
Term
| What causes Essential Fructosuria? |
|
Definition
|
|
Term
| What causes Lesch-Nyhan syndrome? |
|
Definition
| Absence of HGPRTase,(normally converts hypoxanthine to IMP and guanine to GMP) Lacks Nucleotide Salvage (LNS)- purines |
|
|
Term
| What do melanin and norepinephrine have in common? |
|
Definition
| both derived directly from dopamine. Phenylalanine to tyrosine to Dopa to Dopamin |
|
|
Term
| What does the term 'loss of heterozygosity' mean? |
|
Definition
| when one allele of an allele pair is lost. An example is when a patient inherits or develops a mutation in a tumor suppressor gene and the complimentary allele is then lost to deletion/ mutation. The patient would not develop the cancer until the loss of the normal allele. |
|
|
Term
| What enzyme defiencies are associated with hemolytic anemia? |
|
Definition
Glycolytic enzyme deficiencies;
1. Hexokinase
2. glucose-phosphate isomerase
3. aldolase
4. triose-phosphate isomerase
5. phosphate-glycerate kinase enolase pyruvate
kinase |
|
|
Term
| What event in embryology can cause albinism? |
|
Definition
| lack of migration of neural crest cells to skin (form melanocytes) |
|
|
Term
| What event in embryology can cause albinism? |
|
Definition
| lack of migration of neural crest cells to skin (form melanocytes) |
|
|
Term
| What genetic error can cause Severe Combined Immnuodeficiency (SCID)? |
|
Definition
| Adenosine deaminase deficiency |
|
|
Term
| what group of people can be seen with pyruvate dehydrognease deficiency |
|
Definition
| alcoholics due to B1 deficiency |
|
|
Term
| What is a complication of cystinuria? |
|
Definition
|
|
Term
| What is a dominant negative mutation? |
|
Definition
| a mutation that exerts a dominant effect because the body cannot produce enough of the normal gene product with only one allele functioning normally |
|
|
Term
| What is a good mnuemonic for the four glycogen storage diseases? |
|
Definition
Very-Von Gierke's
Poor-Pompes
Carbohydrate-Cori's
Metabolism-McArdles |
|
|
Term
| What is commonly associated with xeroderma pigementosa? |
|
Definition
| dry skin, melanoma and other cancers |
|
|
Term
| What is crucial to the diagnosis of an Autosomal dominant disease? |
|
Definition
|
|
Term
| What is genetic anticipation? |
|
Definition
| the severity of the disease worsens or age of onset of disease is earlier in succeeding generations |
|
|
Term
| What is inheritance of G6PD deficiency and what population is effected more often? |
|
Definition
| X-linked recessive; blacks |
|
|
Term
| What is NAD/NADP made from? |
|
Definition
| Niacin, Serotonin, melatonin |
|
|
Term
| What is osteogenesis imperfecta often confused with? |
|
Definition
|
|
Term
| What is the biochemical defect in Metachromatic leukodystrophy and what is the inheritance pattern? |
|
Definition
deficiency of arylsulfatase A;
Autosomal recessive |
|
|
Term
| What is the biochemical defect in Nieman-Pick disease and how is it inherited |
|
Definition
deficiency of Betaglucocerebrosidase;
autosomal recessive |
|
|
Term
| What is the biochemical effect of G6PD deficiency? |
|
Definition
| decrease in NADPH which is necessary to reduce glutathione which in turn detoxifies free radicals and peroxides |
|
|
Term
| What is the cause of Cystinuria and what are the signs/symptoms? |
|
Definition
| inheritied defect o the tubular amino acid transporter for Cystine, ornithine, Lysine and Arginine in kidneys excess cystine in urine |
|
|
Term
| What is the cause of Fabry's disease and what is the common clinical problem |
|
Definition
| Alpha-galactosidase A deficiency; gives accumulation of ceramide trihexoside causing renal failure |
|
|
Term
| What is the cause of Fabry's disease and what is the common clinical problem |
|
Definition
| Alpha-galactosidase A deficiency; gives accumulation of ceramide trihexoside causing renal failure |
|
|
Term
| What is the cause of galactosemia? |
|
Definition
| Absence of galactose-1-phosphate uridyltransferase; accumualtion of toxic substances (galactitol) |
|
|
Term
| What is the cause of Fabry's disease and what is the common clinical problem |
|
Definition
| Alpha-galactosidase A deficiency; gives accumulation of ceramide trihexoside causing renal failure |
|
|
Term
| What is the characteristic defect in Hurler's syndrome? |
|
Definition
| Alpha-L-iduronidase deficiency leads to corneal clouding and mental retardation |
|
|
Term
| What is the characteristic findings in Neurofibromatosis? |
|
Definition
| Multiple café-au-lait spots, neurofibromas, increased tumor susceptibilty |
|
|
Term
| What is the clinical picture of a patient with cystic fibrosis? |
|
Definition
| pulmonary infections, exocrine pancreatic insufficiency, infertility in men |
|
|
Term
| What is the clinical picture of Duchenne's muscular dystrophy? |
|
Definition
| muscular weakness and degeneration |
|
|
Term
| What is the defect in Maple Syrup Urine disease? |
|
Definition
| decreased Alpha-ketoacid dehydrogenase. blocks degradation of branched amino acids; Ile. Val. Leu |
|
|
Term
| What is the epidemiology of lactose intolerance? |
|
Definition
| Age-dependent and/or hereditary (blacks and Asians) |
|
|
Term
| What is the etiology of Homocystinuria? |
|
Definition
defect in cystathionine synthase.
Two forms:
1. deficiency
2. decreased affinity of synthase for pyridoxal phosphate (cofactor) |
|
|
Term
| What is the finding of Hunter's syndrome on H&P |
|
Definition
| mild mental retardation but no corneal clouding |
|
|
Term
| What is the formula for Hardy-Weinberg equilibrium? |
|
Definition
p^2 +2pq + q^2 =1 and
p+q=1 |
|
|
Term
| What is the genetic mech. of Cystic fibrosis and it's inheritance? |
|
Definition
| AR; multiple loss-of-function mutations in a chloride channel |
|
|
Term
| What is the genetic mechanism of Duchenne's muscular dystrophy? |
|
Definition
| X-linked recessive; caused by multiple loss-of-function mutations in a muscle protein |
|
|
Term
| What is the genetic mechanism of Fragile X MR? |
|
Definition
| X-linked; progressive expansion of unstable DNA causes failure to express gene-encoding RNA-binding protein |
|
|
Term
| what is the genetic mechanism of Neurofibromatosis |
|
Definition
| AD, multiple loss-of function mutations in a signaling molecule |
|
|
Term
| What is the genetic problem in Down's Syndrome? |
|
Definition
| trisomy 21 chromosomal imbalance |
|
|
Term
| What is the inheritance of Krabbe's disease? |
|
Definition
|
|
Term
| what is the inheritance pattern and carrier frequency in Tay-Sach's? |
|
Definition
Autosomal recessive; 1:30 in
Jews of European descent and 1:300 in the general populaition |
|
|
Term
| What is the inheritance pattern of Ehlers-Danlos syndrome? |
|
Definition
10 types of this syndrome:
Type IV; Auto Dominant
Type VI; Auto Recessive
Type IX; X-linked recessive |
|
|
Term
| What is the inheritance pattern of Gaucher's disease? |
|
Definition
|
|
Term
| What is the inheritance pattern of xeroderma pigmentosa? |
|
Definition
|
|
Term
| What is the inheritiance pattern of Fabry's disease? |
|
Definition
|
|
Term
| What is the lab symptoms of G6PD deficiency? |
|
Definition
| Heinz Bodies: altered hemoglobin precipitate in RBC |
|
|
Term
| What is the most distinguishing finding in Tay-Sach's disease on Physical exam |
|
Definition
| cherry red Macula; these patients die by 3 |
|
|
Term
| What is the pathogneumonic cell type founde in Gaucher's disease? |
|
Definition
| Gaucher's cells with the characteristic 'crinkled paper' appearance of enlarged cytoplasm |
|
|
Term
| What is the pattern of inheritance of Leber's hereditary optic neuropathy? |
|
Definition
| mitochondrial inheritance |
|
|
Term
| What is the phenotype in Osteogenesis imperfecta? |
|
Definition
| increased susceptibility to fractures; connective tissue fragility |
|
|
Term
| What is the phenotype of Down's syndrome? |
|
Definition
| Mental and growth retardation, dysmorphic features, internal organ anomalies especially heart problems |
|
|
Term
| What is the phenotype of Fragile X? |
|
Definition
| mental retardation, characteristic facial features, large testes |
|
|
Term
| What is the predominant problem in Ehlers-Danlos syndrome? |
|
Definition
| Faulty collagen synthesis |
|
|
Term
| What is the prevalance of cystic fibrosis? |
|
Definition
| 1:2000 whites; very rare among Asians |
|
|
Term
| What is the prevalance of Neurofibromatosis? |
|
Definition
| 1:3000 with 50% being new mutations |
|
|
Term
| What is the prevalence of Down's syndrome and what are the risk factors? |
|
Definition
| 1:800; increased risk with advanced maternal age |
|
|
Term
| What is the prevalence of Duchenne's musc. dys. |
|
Definition
|
|
Term
| What is the prevalence of Fragile X- associated mental retardation? |
|
Definition
| 1:1500 males: can be in females, is a multi-step process |
|
|
Term
| What is the prevalence of osteogenesis imperfecta? |
|
Definition
|
|
Term
| What is the prevalence of Phenylketonuria? |
|
Definition
|
|
Term
| What is the priamry defect in Fructose intolerance and how is it inherited? |
|
Definition
defiency of aldolase B,
autosomal recessive |
|
|
Term
| What is the primary defect in Alkaptonuria? |
|
Definition
| congenital defiency of homogentisic acid oxidase in the degradative pathway of tyrosine |
|
|
Term
| What is the primary defect(s) found in Phenylketoneuria? |
|
Definition
either
1.decreased phenylalanine hydroxylase
or
2. decreased tetrahydrobiopterin cofactor |
|
|
Term
| What is the rate-limiting enzyme in the Hexose- Monophosphate shunt? |
|
Definition
| Glucose-6-phosphate dehydrogenase |
|
|
Term
| What is the result of pyruvate dehydrognease deficiency? |
|
Definition
| backup of substrate (pyruvate and alanine) resulting in lactic acidosis |
|
|
Term
| What is the specific defect in Xeroderma pigmentosa? |
|
Definition
defective excision repair such as uvr ABC exonuclease;
have inability to repair thymidine dimer formed by UV light |
|
|
Term
| What is the treament of Cystinuria and what is a possible consequence of not treating? |
|
Definition
| Acetazolide to alkalinize the urine cystine kidney stones due to excess cysteine |
|
|
Term
| What is the treatment of fructose intolerance? |
|
Definition
| decrease intake of both fructose and sucrose (glucose + fructose) |
|
|
Term
| What is the treatment of Homocystinuria? |
|
Definition
1. For a defiency in cystathionine synthase tx by decrease Met and increase Cys in diet
2. for decreased affinity of synthase Tx by decrease vitamin B6 in diet |
|
|
Term
| What is the Tx of galactosemia? |
|
Definition
| Exclude galactose and lactose (galactose + glucose) from diet |
|
|
Term
| what offspring of females affected with a mitochondrial inherited disease will be effected? |
|
Definition
| all offspring can be effected |
|
|
Term
what percent of offspring
from two autosomal recessive
carrier parents will be
effected? |
|
Definition
|
|
Term
what percent of sons of a
heterazygous mother carrying
an x-linked disease will be
effected? |
|
Definition
|
|
Term
What period of life do
autosomal dominant defects
present in? |
|
Definition
often present clinically after
puberty |
|
|
Term
What three phenyl ketones
build up in the urine of PKU
patients? |
|
Definition
phenyl-acetate,
phenyl-lactate,
phenyl-pyruvate |
|
|
Term
What to thyroxine and Dopa
have in common |
|
Definition
| both derived form tyrosine |
|
|
Term
What type of genetic error is
usually more severe
autosomal recessive or
dominant? |
|
Definition
AR disorders are often more
severe |
|
|
Term
AR disorders are often more
severe |
|
Definition
|
|
Term
When do patients usually
present with autosomal
recessive disorders? |
|
Definition
|
|
Term
Why are RBC so susceptible to
Glycolytic enzyme def. |
|
Definition
RBC's metabolize glucose
anaerobically (no
mitochondria) and depends
on glycolysis |
|
|
Term
Why do people with fructose
intolerance become
hypoglycemic? |
|
Definition
deficent aldolase B causes the accumulation of Fructose 1- phosphate which acts as a phosphate sink and traps the phosphate.
Decreased phosphate availability inhibits glycogenolysis and
gluconeogenesis |
|
|
Term
X-linked recessive disease is
aften more severe in |
|
Definition
|
|
Term
|
Definition
| bisphosphoglycerate mutase |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
prostaglandins,
thromboxanes,
leukotrienes |
|
|
Term
Associate the following signal
molecule precursors. |
|
Definition
|
|
Term
At body pH, what AA are
negatively charged? |
|
Definition
Arg and Lys
(His is neutral at pH 7.4) |
|
|
Term
At body pH, what AA are
positvely charged? |
|
Definition
|
|
Term
|
Definition
|
|
Term
By what rxn order kinetics
does alcohol dehydrogenase
operate? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
Contrast glucagon and
insulin. |
|
Definition
glucagon phosphorylates stuff;
-turns glycogen synthase off and
phosphorylase on |
|
|
Term
Contrast hexokinase and
glucokinase. |
|
Definition
hexokinase throughout the
body, -GK in liver and has
lower affinity but higher
capacity for glucose |
|
|
Term
Contrast hexokinase and
glucokinase. |
|
Definition
only HK is feedback inhibited
by G6P |
|
|
Term
Does insulin affect glucose
uptake of brain, RBC's and
liver? |
|
Definition
|
|
Term
Does insulin inhibit glucagon
release by alpha cells of
pancreas? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
fructose-1,6-bis-P via PFK
(rate limiting step of glycolysis) |
|
|
Term
|
Definition
|
|
Term
|
Definition
| glutamate decarboxylase (requires vit. B6) |
|
|
Term
|
Definition
|
|
Term
How are ketone bodies
excreted? |
|
Definition
|
|
Term
How are ketone bodies
formed? |
|
Definition
FA and AA converted to
acetoacetate and B-hydroxybutyrate |
|
|
Term
How do the statin drugs
work? |
|
Definition
they inhibit HMG-CoA
reductase |
|
|
Term
| How does disulfiram work? |
|
Definition
| inhibits acetylaldehyde dehydrogenase |
|
|
Term
How does FA enter the
cytosol? |
|
Definition
|
|
Term
How does FA enter the
mitochondria? |
|
Definition
| via the carnitine shuttle |
|
|
Term
How does lead affect heme
synthesis? |
|
Definition
inhibits
ALA dehydratase and
ferrochelatase
prevents incorporation of Fe |
|
|
Term
How does the brain
metabolize ketone bodies? |
|
Definition
| to 2 molecules of acetyl coA |
|
|
Term
How is bilirubin removed
from the body? |
|
Definition
collected by liver,
conjugated with glucuronate,
excreted in bile |
|
|
Term
| How is ethanol metabolized? |
|
Definition
ethanol oxidized to acetylaldehyde by alcohol dehyd and NAD+
acetalaldehyde ox to acetate by acetylaldehyde and NAD+ |
|
|
Term
How is FA entering the
mitochondria inhibited? |
|
Definition
| by cytoplasmic malonyl-CoA |
|
|
Term
How is glutamate converted
to a-ketogluturate |
|
Definition
By the loss of amonium and
reduction of NADP |
|
|
Term
How is glutamine converted
to glutamate? |
|
Definition
|
|
Term
|
Definition
| scavenged from RBC's and Fe+2 is reused |
|
|
Term
How is LDL uptake
undergone? |
|
Definition
by target cells through
receptor-mediated
endocytosis |
|
|
Term
How is most plasma
cholesterol esterfied? |
|
Definition
| LCAT(lecethin-cholesterol acyltransferase) |
|
|
Term
How is NAD+ generally used
metabolically? |
|
Definition
|
|
Term
How is NADPH generally used
metabolically? |
|
Definition
anabolic processes (steroid and FA synthesis),
respiratory burst,
P-450 |
|
|
Term
|
Definition
by need for ATP and supply of
NAD+ |
|
|
Term
How many ATP's per acetyl
CoA? |
|
Definition
|
|
Term
How many ATP equivalants
are needed to generate
glucose from pyruvate? |
|
Definition
|
|
Term
How many enzyme activities
does pyruvate dehydrognase
possess |
|
Definition
|
|
Term
How many moles of ATP are
generated aerobically through
G3P shuttle? |
|
Definition
|
|
Term
How many moles of ATP are
generated aerobically through
malate shuttle? |
|
Definition
|
|
Term
How many moles of ATP are
generated anaerobically? |
|
Definition
|
|
Term
In what tissue does heme
synthesis occur (2)? |
|
Definition
|
|
Term
|
Definition
insulin moves glucose into
cells |
|
|
Term
Is Serum C peptide present
with exogenous insulin
intake? |
|
Definition
|
|
Term
Kwashikor results from a
protein deficient MEAL
(mneumonic) |
|
Definition
Malabsorption, Edema,
Anemia, Liver (fatty) |
|
|
Term
Mnemonic for
gluconeogenesis irreversible
enzymes? |
|
Definition
Pathway
Produces
Fresh
Glucose |
|
|
Term
|
Definition
|
|
Term
Name 6 common products of
pyruvate metabolism? |
|
Definition
glucose, lactate,
Acetyl CoA, CO2,
OAA, Alanine |
|
|
Term
Name the activated carriers
with associated moleclues
(one carbon units). |
|
Definition
|
|
Term
|
Definition
|
|
Term
Uncouplers stop ATP
production? T/F. |
|
Definition
|
|
Term
Underproduction of heme
causes what anemia? |
|
Definition
| microcytic hypochromic anemia |
|
|
Term
What AA are required during
periods of growth? |
|
Definition
|
|
Term
What are clincial syndromes
of this disorder? |
|
Definition
xanthomas, atherosclerosis
homozygotes = MI by age 30 |
|
|
Term
What are major pathways
occur in the liver (8)? |
|
Definition
most including
gluconeogenesis, etc. |
|
|
Term
What are the activators of
glycgenolysis? |
|
Definition
| cAMP, and calcium ion (Sk.Ms.) |
|
|
Term
What are the cofactors of
pyruvate dehydrogenase (5)? |
|
Definition
pyrophosphate, lipoic acid,
CoA, FAD and NAD |
|
|
Term
What are the components of a
cholymicron remnant? |
|
Definition
|
|
Term
What are the components of a
cholymicron? |
|
Definition
| TG, apo C-II, apo E, B-48, apo A |
|
|
Term
What are the components of
IDL? |
|
Definition
|
|
Term
What are the components of
LDL? |
|
Definition
|
|
Term
What are the components of
VLDL? |
|
Definition
TG, Cholesterol ester, B-100,
CII and E |
|
|
Term
What are the degradation
product steps (3)? |
|
Definition
| heme to biliverdin to bilirubin |
|
|
Term
What are the effector
hormones of cholesterol
synthesis? |
|
Definition
insulin increases, glucagon
decreases |
|
|
Term
What are the effector
hormones of glyc and pyr ox? |
|
Definition
decreased glucagon and
increased insulin |
|
|
Term
What are the effector
hormones of glycogenolysis? |
|
Definition
insulin decreases, epi and
glucagon increases |
|
|
Term
What are the effector
hormones of lipogenesis (2)? |
|
Definition
insulin increases, glucagon
decreases |
|
|
Term
What are the electron
transport chain inhibitors? |
|
Definition
| rotenone, antimycin A, CN-, CO |
|
|
Term
What are the essential
glucogenic/ketogenic AA? |
|
Definition
|
|
Term
What are the essential
gluconeogenic AA? |
|
Definition
|
|
Term
What are the essential
ketogenic AA? |
|
Definition
|
|
Term
What are the irreversible
enzymes of gluconeogenesis
(4)? |
|
Definition
pyruvate carboxylase,
PEP carboxykinase,
fructose-1,6 bisphosphotase,
glu-6-phosphotase |
|
|
Term
What are the irreversible
enzymes of glycolysis (4)? |
|
Definition
glucokinase/hexokinase,
PFK,
pyruvate kinase,
pyruvate dehdrogenase |
|
|
Term
What are the main substrates
used by adipose tissue (2)? |
|
Definition
-glucose, -lipoprotein
triacylglycerol |
|
|
Term
What are the main substrates
used by brain? |
|
Definition
-glucose, -aa and ketone
bodies when starved, -
polyunsat FA in neonates |
|
|
Term
What are the main substrates
used by heart? |
|
Definition
FFA, -some glucose, -lactate,
-ketone bodies, VLDL and
cholymicrom triacylglycerol |
|
|
Term
What are the main substrates
used by liver? |
|
Definition
FFA, -glucose, -lactate, -
glycerol, fructose, -AA |
|
|
Term
What are the major activators
of gluconeogenesis? |
|
Definition
Acetyl CoA for pyruvate
carboxylase and cAMP for PEP
carboxykinase and F-1,6-
bis-P |
|
|
Term
What are the major activators
of glycolysis and pyruvate
oxidation? |
|
Definition
AMP, fructose2,6-bis-P,
fructose 1,6-bis-P in muscle,
CoA, NAD, ADP and pyruvate |
|
|
Term
What are the major metabolic
pathways of the adipose
tissue (2)? |
|
Definition
- esterfication of FA's -
lipolysis |
|
|
Term
What are the major metabolic
pathways of the brain (2)? |
|
Definition
| -glycolysis,-aa metabolism |
|
|
Term
What are the major metabolic
pathways of the heart? |
|
Definition
Aerobic pathways like B
oxidation and TCA cycle |
|
|
Term
What are the major products
of the adipose tissue (2)? |
|
Definition
|
|
Term
What are the major products
of the brain? |
|
Definition
|
|
Term
What are the major products
of the liver (10)? |
|
Definition
glucose,-VLDL,-HDL,-ketone
bodies,-urea,-uric acid, -bile
acids, -plasma proteins |
|
|
Term
What are the major regulatory
enzymes of gluconeogenesis
(3)? |
|
Definition
pyruvate carboxylase, PEP
carboxykinase and F-1,6-
bis-P |
|
|
Term
What are the major regulatory
enzymes of glycolysis and
pyruvate oxidation? |
|
Definition
PFK and pyruvate
dehydrogenase |
|
|
Term
What are the major regulatory
enzymes of cholesterol
synthesis? |
|
Definition
|
|
Term
What are the products of the
liver in the fasting state? |
|
Definition
| glucose and ketone bodies |
|
|
Term
What are the products of the
liver in the fed state? |
|
Definition
|
|
Term
What are the products of the
TCA cycle? |
|
Definition
3NADH, 1FADH2, 2CO2,
1GTP per Acetyl CoA |
|
|
Term
What are the some causes of
hyperbilirubinemia (4)? |
|
Definition
massive hemolysis, -block in
catabolism, -displaced from
binding sites on albumin,
decreased excretion |
|
|
Term
What are the sources of
hyperbilirubinemia (2)? |
|
Definition
conjugated (direct/
glucuronidated) and
unconjugated(indirect/
insoluble) |
|
|
Term
What are the specialist
enzymes of muscle (2)? |
|
Definition
-lipoprotein lipase, and well
developed resp chain |
|
|
Term
What are the specialist
enzymes of the adipose
tissue (2)? |
|
Definition
-lipoprotein lipase,-hormone
sensitive lipase |
|
|
Term
What are the specialist
enzymes of the heart (2)? |
|
Definition
-lipoprotein lipase, -
respiratory chain welldeveloped |
|
|
Term
What are the specialist
enzymes of the liver? |
|
Definition
-glucokinase,-glu-6-
phosphotase,-glycerol
kinase, -PEP carboxykinase, -
fructokinase,-arginase,-HMG
coA synthase and lyase, -7ahydroxylase |
|
|
Term
What are the three sites in the
electron transport chain for
active proton transfer? |
|
Definition
NADH dehydrogenase,
Cyt b/c1, and
cytochrome oxidase aa3 |
|
|
Term
What can occur as an excess
of cholymicrons (3)? |
|
Definition
pancreatitis, lipemia retinalis
and eruptive xanthomas |
|
|
Term
What can occur as an excess
of VLDL? |
|
Definition
|
|
Term
What catalyzes cholymicron
to cholymicron remnant? |
|
Definition
|
|
Term
| What catalyzes IDL to LDL? |
|
Definition
|
|
Term
| What catalyzes VLDL to IDL? |
|
Definition
|
|
Term
|
Definition
| acetylaldehyde accumulates |
|
|
Term
What color is bilirubin and
what is the condition of
excess? |
|
Definition
|
|
Term
What complex is pyruvate
dehydrogenase similar to? |
|
Definition
a-ketogluturate
dehydrogenase complex |
|
|
Term
What do LT c4, D4 and E4 do
(4)? |
|
Definition
bronchconstriction,
vasoconstriction, contract
smooth muscle, increase
vascular permeability |
|
|
Term
What does breath smell like
during ketoacidosis? |
|
Definition
|
|
Term
What does excess LDL cause
(3)? |
|
Definition
atherosclerosis, xanthomas,
and arcus corneae |
|
|
Term
What does oligomycin do to
ETC? |
|
Definition
ATPase inhibitor that
increases proton gradient but
not ATP production |
|
|
Term
|
Definition
| platelet gathering inhibitor |
|
|
Term
What does the COX pathway
yield? |
|
Definition
thromboxanes,
prostaglandins and
prostacyclin |
|
|
Term
What does the lipooxygenase
pathway yield? |
|
Definition
|
|
Term
| What does this stand for? |
|
Definition
Ornithine, citrulline,
carbamoyl-p, aspartate,
arginosuccinate, fumurate,
arginine, urea |
|
|
Term
What enzyme catalyzes the
rate limiting step of
cholesterol syn.? |
|
Definition
|
|
Term
|
Definition
|
|
Term
What is a major component of
atherosclerotic plaque? |
|
Definition
|
|
Term
What is an uncoupling agent
to the ETC? |
|
Definition
|
|
Term
What is cofactor required for
methionine (SAM)
regeneration? |
|
Definition
|
|
Term
| What is does PGI 2 inhibit (2)? |
|
Definition
platelet aggregation and
vasodilation |
|
|
Term
| What is familial hypercholesteremia? |
|
Definition
AD genetic defect in LDL
receptor |
|
|
Term
|
Definition
|
|
Term
|
Definition
| neutrophil chemotactic agent |
|
|
Term
|
Definition
Protein-calorie malnutrition
resulting in tissue wasting |
|
|
Term
What is the activator of
lipogenesis? |
|
Definition
|
|
Term
| What is the activator of PPP? |
|
Definition
|
|
Term
What is the clinical picture of
Kwashikor? |
|
Definition
| small child with swollen belly |
|
|
Term
What is the committed step of
heme synthesis? |
|
Definition
| glycine + succ CoA to deltaaminolevulinate |
|
|
Term
What is the composition of
ATP? |
|
Definition
Base(adenine), ribose, 3
phosphoryls |
|
|
Term
What is the consequence of
accumulated intermediates of
heme synthesis? |
|
Definition
|
|
Term
What is the easy way to
remember the cofactors of
PDH complex? |
|
Definition
First 4 B vitamins + lipoic
acid |
|
|
Term
What is the effector hormone
for glycogenesis? |
|
Definition
|
|
Term
What is the energy content of
the 2 phosphoanhydride
bonds? |
|
Definition
|
|
Term
What is the functiion of HDL
(2)? |
|
Definition
transfers cholesterol from
periphery to liver acts as a
repository for apoC and apoE |
|
|
Term
What is the functioin of
lipoprotein lipase? |
|
Definition
FA uptake to cells from
choly's and VLDL's |
|
|
Term
What is the function of
aminolevulinate (ALA)
synthase ? |
|
Definition
rate limiting step of heme
synthesis converts succinyl
CoA and glycine to ALA |
|
|
Term
What is the function of
cholymicrons (2)? |
|
Definition
delivers dietary TG to
peripheral tissues delivers
dietary cholesterol to liver |
|
|
Term
What is the function of
hormone sensitive lipase? |
|
Definition
| degradation of stored TG's |
|
|
Term
| What is the function of LDL? |
|
Definition
delivers hepatic cholesterol to
peripheral tissues |
|
|
Term
What is the function of
phospholipase A2? |
|
Definition
liberates arachidonic acid
from cell membrane |
|
|
Term
What is the function of PPP
(3)? |
|
Definition
-produces ribose-5-P from G6P for nucleotide synthesis,
-produces NADPH,
-part of HMP shunt |
|
|
Term
| What is the function of SAM? |
|
Definition
transfers methyl units to wide
variety of receptors |
|
|
Term
What is the function of the
Cori Cycle? |
|
Definition
transfers excess reducing
equivalants from RBC's and
muscle to liver to allow
muscle to function
anaerobically |
|
|
Term
What is the function of Tx A2
(2)? |
|
Definition
platelet aggregation and
vasoconstriction |
|
|
Term
| What is the function of VLDL? |
|
Definition
Delivers hepatic TG to
peripheral tisssue |
|
|
Term
What is the inhibitor of
lipogenesis (2)? |
|
Definition
| long-chain acyl-CoA, -cAMP |
|
|
Term
| What is the inhibitor of PPP? |
|
Definition
|
|
Term
What is the limiting reagent
of ethanol metabolism? |
|
Definition
|
|
Term
What is the main substrate of
fast twitch muscle? |
|
Definition
|
|
Term
What is the main substrate of
slow twitch muscle? |
|
Definition
| ketone bodies, FFA, triacylglycerol |
|
|
Term
What is the major function of
fast twitch muscle? |
|
Definition
|
|
Term
What is the major function of
slow twitch muscle? |
|
Definition
|
|
Term
What is the major function of
the a1 receptor? |
|
Definition
increase vascular smooth
muscle contraction |
|
|
Term
What is the major function of
the a2 receptor (2)? |
|
Definition
-decrease sympathetic outflow,
-decrease insulin
release |
|
|
Term
What is the major function of
the B1 receptor (5)? |
|
Definition
increase HR,
-inc. contractility,
-inc. renin release,
-inc. lipolysis,
-inc. aq. Humor formation |
|
|
Term
What is the major function of
the B2 receptor (3)? |
|
Definition
vasodilation, bronchodilation,
inc. glucagon release |
|
|
Term
What is the major function of
the D1 receptor? |
|
Definition
relax renal vascular smooth
muscle |
|
|
Term
What is the major function of
the D2 receptor? |
|
Definition
modulate transmitter release,
esp. in brain |
|
|
Term
What is the major function of
the H1 receptor (4)? |
|
Definition
-increase mucous production,
-contract bronchioles,
-pruritis,
-pain |
|
|
Term
What is the major function of
the H2 receptor (4)? |
|
Definition
| increase gastric acid secretion |
|
|
Term
What is the major function of
the liver? |
|
Definition
service for the other organs
and tissues |
|
|
Term
What is the major function of
the M1 receptor? |
|
Definition
|
|
Term
What is the major function of
the M2 receptor? |
|
Definition
|
|
Term
What is the major function of
the M3 receptor? |
|
Definition
increase exocrine gland
secretions |
|
|
Term
What is the major function of
the V1 receptor? |
|
Definition
increase vascular smooth
muscle contraction |
|
|
Term
What is the major function of
the V2 receptor? |
|
Definition
increase water permeability
and reabsorption in the renal
collecting tubules |
|
|
Term
What is the major inhibitor of
glyc and pyr ox? |
|
Definition
citrate (FA and ketone bodies)
ATP and cAMP, -acetyl CoA,
NADH, ATP |
|
|
Term
What is the major inhibitor of
TCA? |
|
Definition
|
|
Term
What is the major inhibitor of
cholesterol synthesis (2)? |
|
Definition
|
|
Term
What is the major inhibitor of
glycogenesis? |
|
Definition
| ADP and AMP and F-2,6-bis-P |
|
|
Term
What is the major metabolic
pathway of fast twitch
muscle? |
|
Definition
|
|
Term
What is the major metabolic
pathway of slow twitch
muscle? |
|
Definition
Aerobic pathways like B oxidation and
TCA cycle |
|
|
Term
What is the major product of
fast twitch muscle? |
|
Definition
|
|
Term
What is the major product of
slow twitch muscle? |
|
Definition
|
|
Term
What is the major regulatory
enzyme of glycogenolysis? |
|
Definition
|
|
Term
What is the major regulatory
enzyme of lipogenesis? |
|
Definition
|
|
Term
What is the major regulatory
enzyme of pentose
phosphate pathway (PPP)? |
|
Definition
| glucose-6-P dehydrogenase |
|
|
Term
What is the major regulatory
enzyme of TCA? |
|
Definition
|
|
Term
What is the mechanism for
the ETC inhibitors? |
|
Definition
directly block ETC, cause
decreased proton gradient |
|
|
Term
What is the mechanism for
the ETC uncoupler? |
|
Definition
inc. membrane permeability,
decreases proton gradient
and increases O2 consmption |
|
|
Term
What is the mechanism of
ethanol hypoglycemia? |
|
Definition
NADH/NAD increases in liver
causes diversion of pyruvate
to lactate and OAA to malate
inhibits gluconeogenesis and
thus leads to hypoglycemia |
|
|
Term
What is the mnemonic for the
various substrates of the TCA
cycle? |
|
Definition
Cindy Is Kinky So She
Fornicates More Often |
|
|
Term
What is the mneumonic for
essential AA? |
|
Definition
|
|
Term
What is the mneumonic for
major apolipoproteins? |
|
Definition
A-1 Activates LCAT B-100
Binds to receptor C-II is a
Cofactor for LPL E mediates
Extra (remnant) uptake |
|
|
Term
What is the mneumonic for
the Urea cylce substrates? |
|
Definition
Ordinarily, Careless Crappers
Are Also Frivolous About
Urination |
|
|
Term
|
Definition
an intestinal intermediate
reabsorbed to blood and
excreted in urine as urobilin |
|
|
Term
What other physiological side
affect occurs by this
hypoglycemia? |
|
Definition
fatty liver seen in chronic
alcoholics |
|
|
Term
What rxn does pyruvate
dehydrogenase catalyze? |
|
Definition
pyruvate+NAD+CoA goes to
acetyl-CoA +CO2+NADH |
|
|
Term
What second messenger
system does Gi work
through? |
|
Definition
| adenylcyclase reduces cAMP levels and protein kinase A is reduced |
|
|
Term
What second messenger
system does Gq work
through? |
|
Definition
phospholipase C,
PIP2 to IP3 and DAG.
DAG works through protein kinase C IP3 increases IC calcium ion |
|
|
Term
What second messenger
system does Gs work
through? |
|
Definition
adenylcyclase converts ATP to
cAMP to phosphorylate
protein kinase A |
|
|
Term
What some properties of
bilirubin (3)? |
|
Definition
sparingly water soluble toxic
to CNS transported by
albumin |
|
|
Term
What step does this enzyme
work on? |
|
Definition
|
|
Term
What suppresses
glycogenesis? |
|
Definition
|
|
Term
What tissues require insulin
for glucose uptake? |
|
Definition
| adipose and skeletal muscle |
|
|
Term
What type of metabolism
occurs in the both (3)? |
|
Definition
-gluconeogenesis,
-urea cycle,
-heme synthesis |
|
|
Term
What type of metabolism
occurs in the cytoplasm (5)? |
|
Definition
glycolysis,
fatty acid synthesis,
HMP shunt,
protein synthesis (RER)
steroid synthesis (SER) |
|
|
Term
What type of metabolism
occurs in the mitochondria
(3)? |
|
Definition
Beta oxidation,
Acetyl-CoA production,
Kreb's cycle |
|
|
Term
When are ketone bodies
formed (2)? |
|
Definition
during prolonged starvation
diabetic ketoacidosis |
|
|
Term
Where are basic AA found in
high amounts? |
|
Definition
in Histones that bind to
negative DNA |
|
|
Term
Where are cholymicrons
made? |
|
Definition
|
|
Term
Where are ketone bodies
made? |
|
Definition
|
|
Term
Where does FA degradation
occur? |
|
Definition
| mitochondria, where it will be used |
|
|
Term
Where does FA synthesis
occur? |
|
Definition
|
|
Term
Where is ALA synthase found
and what inhibits it? |
|
Definition
|
|
Term
Where is HDL secreted from
(2)? |
|
Definition
| liver and small intestine |
|
|
Term
|
Definition
|
|
Term
| Where is NADPH generated? |
|
Definition
is a product of HMP shunt
and the malate dehydrogenase rxn |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
Which ketone body is
detected in urine test (1
only)? |
|
Definition
|
|
Term
Carbon monoxide has a
greater affinity for what
molecule? |
|
Definition
CO has 200x greater affinity
for hemoglobin than for
oxygen |
|
|
Term
Describe the subunits for
hemoglobin? |
|
Definition
hemoglobin is composed of 4
polypeptide subunits (2 alpha
and 2 beta) |
|
|
Term
During the cycle of the
sodium pump, it is __. |
|
Definition
|
|
Term
| How are enzymes regulated? |
|
Definition
1. enzyme concentration alteration (synthesis and/or destruction)
2. covalent modification (eg. phosphorylation)
3. proteolytic modification (zymogen)
4. allosteric regulation (eg. feedback
inhibition)
5. transcriptional regulation (eg. steroid hormones) |
|
|
Term
How does calcium cause
skeletal muscle contraction? |
|
Definition
Ca2+ ; activates troponin ;
moves tropomyosin ;
exposes actin-bining site ;
allows actin/myosin interaction |
|
|
Term
How does calcium cause
smooth muscle contraction? |
|
Definition
| Ca2+ ; binds to calmodulin because smooth muscle doesn't have troponins! |
|
|
Term
How does procollagen
molecules become collagen
fibrils? |
|
Definition
procollagen molecules cleaved
at terminal regions by
peptidases to become insoluble
tropocollagen, which aggregates
to form fibrils procollagen
molecules are exocytosed into
extracellular space, where this
process occurs |
|
|
Term
How is CO2 transported from
tissue to lungs? |
|
Definition
- binds to amino acids in
globin chain (at N-terminus),
not to heme
- favors T form of Hb (thus promotes O2
unloading) |
|
|
Term
How is collagen fibillar
structure reinforced? |
|
Definition
by the formation of covalent
lysine-hydroxylysine
crosslinks between
tropocollagen molecules |
|
|
Term
How is hemoglobin structure
regulated? |
|
Definition
increased Cl-, H+, CO2, DPG,
and temperature favor T form
(low affinity of O2)--shifting
the dissociation curve to the
right, leading to increased O2
unloading |
|
|
Term
Most cells are in which cell
cycle phase? |
|
Definition
|
|
Term
On what cellular stuctures are
microtubules found? |
|
Definition
| flagella, cilia, mitotic spindles |
|
|
Term
On which cells is
phosphotidylcholine (lecithin)
a major component? |
|
Definition
- RBC membranes
- myelin
- bile
- surfactant (DPPC-dipalmitoyl phosphatidylcholine)
- also used in the esterification of
cholesterol |
|
|
Term
Only the cytoplasmic side of
membrane contains what? |
|
Definition
| glycosylated lipids or proteins |
|
|
Term
The lower the Km, the
(higher/lower/remains same)
the affinity |
|
Definition
|
|
Term
What are the 2 forms of
hemoglobin? |
|
Definition
- T (taut) form has low affinity for oxygen
- R (relaxed) form has 300x
higher affinity for oxygen Hb exerts
positive cooperativity and negative
allostery, accounting for the
sigmoid-shaped O2 disassociation
curve (which myoglobin doesn't have)
[Hint: When you're RELAXED, you do
your job better (carry more O2)] |
|
|
Term
What are the cell cycle
phases? |
|
Definition
Mitosis (Prophase- Metaphase-Anaphase-
Telophase)
G1 (Gap or Growth)
S (Synthesis of DNA)
G2 (Gap or Growth)
G0 (quiescent G1 phase) |
|
|
Term
What are the characteristics
of a microtubule? |
|
Definition
- cylindrical structure 24nm in
dia and variable length - helical
array of polymerized dimers of
alpha- and beta-tubulin (13 per
circumference) - each dimer has
2 GTP bound - grows slowly,
collapses quickly - involved in
slow axoplasmic transport in
neurons |
|
|
Term
What are the characteristics
of competitive inhibitors? |
|
Definition
- resemble substrates
- bind reversibly to active sites of
enzymes
- high substrate concentrations overcomes effect of inhibitors
- Vmax remains unchanges
- Km increases compared to uninhibited |
|
|
Term
What are the characteristics
of noncompetitive inhibitors? |
|
Definition
- doesn't resemble substrate
- bind to enzyme but not
necessarily at active site
- inhibition can't be overcome by
high substrate concentration
- Vmax decreases
- Km remains unchanged compared to
uninhibited |
|
|
Term
What cell cycle phases are
variable in duration? |
|
Definition
|
|
Term
What drugs act on
microtubules? |
|
Definition
mebendazole/
thiabendazole (antihelmintic)
-taxol (anti-breast cancer)
- griseofulvin (antifungal)
- cholichicine (anti-gout) |
|
|
Term
What drugs inhibits the
sodium pump? |
|
Definition
- Ouabain inhibits the pump
by binding to the K+ site -
cardiac glycosides (digoxin,
digitoxin) also inhibit the
pump, causing increased
cardiac contractility |
|
|
Term
| What is methemoglobinemia? |
|
Definition
blood disorder where
methemoglobin, an oxidized
form of hemoglobin (ferric,
Fe3+) that does not bind O2
as readily. Iron in Hb is
normally in a reduced state
(ferrous, Fe2+) |
|
|
Term
What is the difference
between collagen fibril and
collagen molecule? |
|
Definition
fibril is made of molecules
collagen fibril--many
staggered collagen molecules
linked by lysyl oxidase
collagen molecule--3
collagen alpha chains, usually
of Gly-x-y (x and y = pro,
OH-pro, or OH-lys) |
|
|
Term
What is the first step in
forming collagen from prolyl
and lysyl residues? Where
does it occur? What nutrient
does it require? |
|
Definition
hydroxylation endoplasmic
reticulum vitamin C |
|
|
Term
What is the plasma
membrane composition? |
|
Definition
- cholesterol (~50%, promotes membrane stability)
- phospholipids (~50%)
- sphingolipids
- glycolipids
- proteins |
|
|
Term
|
Definition
|
|
Term
What molecules, how many of
them, and in what direction
are moved across the
membrane by the sodium
pump? |
|
Definition
| 3 Na go out and 2 K go in |
|
|
Term
| Where is the sodium pump? |
|
Definition
on the membrane, with the
ATP site on the cytoplasmic
side of the pump |
|
|
Term
Which cell cycle phase is
shorter in rapidly dividing
cells? |
|
Definition
rapidly dividing cells have a
shorter G1 phase |
|
|
Term
Which cell cycle phase is
usually shortest? |
|
Definition
|
|
Term
Arthralgia's, fatigue,
headaches, skin changes,
sore throat, alopecia are
symptoms foundin what
vitamin deficiency |
|
Definition
|
|
Term
How does sarcoidosis cause
hypercalcemia? |
|
Definition
in sarcoid, epitheliod
macrophages convert vitamin
D into it's active form leading
to increased absorption of
calcium |
|
|
Term
How many ATP are made
from Niacin |
|
Definition
| Niacin=NAD niacin is B3=3 ATP |
|
|
Term
What are the characteristic
findings seen in Riboflavin
deficiencies |
|
Definition
Riboflavin is B2 2
C's=cheilosis and Corneal
vascularization and also
Angular stomatitis |
|
|
Term
What are the fat soluble
vitamins |
|
Definition
|
|
Term
What are the findings in Vit D
excess? |
|
Definition
Hypercalcemia, loss of
appetite, stupor |
|
|
Term
What are the possible causes
of hypercalcemia? |
|
Definition
1. Vit D intoxication 2.
Malignancy 3.
Hyperparathyroidism 4. Milkalkali
syndrome 5.
Sarcoidosis 6. Paget's disease
of bone |
|
|
Term
What are the signs and
symptoms of vit B12
deficiency? |
|
Definition
1. Macrocytic megaloblastic
anemia 2. Neurologic
symptoms-optic neuropathy,
subacute combined
degeneration 3. glossitis |
|
|
Term
What are the signs of Biotin
deficiency and what are
possilble causes? |
|
Definition
dermatitis, enteritis
antiobiotic use and ingestion
of raw eggs |
|
|
Term
What are the signs of Folate
deficiency? |
|
Definition
Macrocytic megaloblastic
anemia sprue |
|
|
Term
What are the symptoms in Vit
B5 deficiency |
|
Definition
dermatitis, enterititis,
alopecia, adrenal insufficiency |
|
|
Term
What are the symptoms of
Pellagra |
|
Definition
3 D's Diarrhea, Dermatitis,
Dementia, and also Beefy
glossitis |
|
|
Term
What are the usual causes of
Vit B12 deficiency? |
|
Definition
1. Malabsorption- Sprue,
enteritis, Diphyllobthrium
latum (Dr. Lohr's fish tapeworm)
2.lack of intrinsic factor (pernicious anemia)
3.Absence of the terminal ileum- Crohn's disease or surgery |
|
|
Term
What are the water soluble
vitamins |
|
Definition
B complex vitamins
(B1,2,3,5,6,12), Vit C, Biotin,
Folate |
|
|
Term
What can induce pyridoxine
deficiency? Symptoms? |
|
Definition
INH and oral contraceptives
convulsion, hyperirritability |
|
|
Term
What clotting factors are Vit K
dependent and what anticlotting
drug acts as a Vit K
antagonist? |
|
Definition
Factors II, VII, IX, X and
Protein C and S Warfarin |
|
|
Term
what disease is characterized
by polyneuritis, cardiac
pathology and edema and
what is the cause |
|
Definition
Beriberi (Ber1BerI), due to Vit
B1 deficiency |
|
|
Term
What diseases conditions are
caused by Vitamin D
deficiency? |
|
Definition
Rickets in kids Osteomalacia
in adults hypocalcemic tetany |
|
|
Term
What diseases is caused by
Vit C deficiency and what are
the findings? |
|
Definition
Scurvy swollen gums,
bruising, anemia, poor wound
healing |
|
|
Term
What is B12 used for in the
body? |
|
Definition
Cofactor for homocysteine
methylation and
methylmalonyl-CoA handling |
|
|
Term
What is Niacin's function in
the body and from what can it
be derived |
|
Definition
part of NAD, NADP and is
derived from tryptophan |
|
|
Term
What is the active form of
Vitamin D? |
|
Definition
| 1,25 (OH)2 D3 = active form |
|
|
Term
What is the alternate name of
Vit B3, problems in
deficiency, common cause of
defieciency |
|
Definition
niacin Pellagra Hartnup
disease, malignant carcinoid
syndrome, and INH |
|
|
Term
What is the alternate name of
vitamin B1 and what are the
characteristic diseases of it's
deficiency |
|
Definition
Beriberi and Wernicke-
Korsakoff syndrome |
|
|
Term
What is the folic acid
precursor in bacteria and
what antibiotics exploit this
fact? |
|
Definition
PABA is the precursor sulfa
drugs and dapsone are PABA
analogs |
|
|
Term
What is the form of vitamin D
consumed in milk? |
|
Definition
|
|
Term
What is the form of Vitamin D
found in sun-exposed skin? |
|
Definition
|
|
Term
What is the function and
alternate name of Vit. B2 |
|
Definition
cofactor in oxidation and
reduction (FAD,FMN)
RiboFlavin |
|
|
Term
| What is the function of Biotin? |
|
Definition
Cofactor for carboxylations
1. Pyruvate to oxaloacetate
2. Acetyl-CoA to malonyl Co-A
3. Prprionyl-CoA to methylmalonyl-CoA |
|
|
Term
What is the function of folic
acid? |
|
Definition
coenzyme for 1-carbon
transfer;methylation reactions
important for the synthesis of
nitrogenous bases in DNA
and RNA |
|
|
Term
What is the function of Vit A,
it's alternate name, and
symptoms in deficiency |
|
Definition
visual pigments (retinal)
retinol night blindness and
dry skin |
|
|
Term
| What is the function of Vit B1 |
|
Definition
it becomes Thiamine
Pyrophosphate (TPP) and is
used in: oxidative
decarboxylation of Alphaketo
acids (pyruvate, Alphaketoglutarate
cofactor for
tranketolase in the HMP shunt |
|
|
Term
| What is the function of Vit B6 |
|
Definition
B6 (pyridoxine) is converted
to pyridoxal phosphate a
cofactore in transamination
reactions (ALT & AST),
decarboxylation, and transsulfuration |
|
|
Term
| What is the function of Vit E? |
|
Definition
antioxidant; especially in
Erythrocytes where it protects
them from hemolysis Vit E is
for Erythrocytes |
|
|
Term
What is the function of
vitamin C? |
|
Definition
1. Cross linking of collagen hydroxylation of proline and lysine in collagen synthesis keeping iron in the Fe2+ reduced state making it more absorbable
3. Cofactor for coverting dopamine to norepinephrine |
|
|
Term
What is the function of
Vitamin D? |
|
Definition
increase intestinal absorption
of Calcium and phosphate |
|
|
Term
What is the function of
Vitamin K? |
|
Definition
catalyzes gammacarboxylation
of glutamic
acid residues on various
proteins concerned with
clotting. |
|
|
Term
What is the most common
vitamin deficiency in the
United States? |
|
Definition
|
|
Term
What is the rule of 2's for Vit
B2 |
|
Definition
2 F's, 2C's and 2ATP 2
F's=FAD&FMN 2 C's =
signs of deficiency cheilosis
and corneal vascularization
oxidation of FADH2 leads to 2
ATP |
|
|
Term
What is the sotrage form of
Vitamin D? |
|
Definition
|
|
Term
What is the source of Vit B12
and what is B12's other name |
|
Definition
found only in animal products
cobalamin |
|
|
Term
What is vit B5's function and
alternate name |
|
Definition
constituent of CoA, part of
fatty acid synthase. Cofactor
for acyl transfers
Pantothenate (Pantothen-A is
in Co-A) |
|
|
Term
What manifestation is specific
to wet beriberi? |
|
Definition
high output cardiac failure
(dilated cardiomyopathy) |
|
|
Term
What molecule in egg white
binds up Biotin and causes
deficiency |
|
Definition
|
|
Term
What problems do you see in
Vit K deficiency? |
|
Definition
Neonatal hemorrhage with
increased PT increased aPTT,
but normal bleeding time in
general, mild vitamin k
deficiency will prolong PT and
have normal PTT severe
deficiency will prolong PT and
PTT |
|
|
Term
What scenerios are vit B
defieciencies often seen in |
|
Definition
| alcholism and malnutrition |
|
|
Term
What test is used to detect
B12 deficiency |
|
Definition
|
|
Term
What two general types of
things will cause fat soluble
vitamin deficiency |
|
Definition
Malabsorption syndromes
( cystic fibrosis and sprue)
and mineral oil intake |
|
|
Term
What vitamins more
commonly cause toxicity and
why |
|
Definition
fat soluble vitamins b/c these
accumulate in fat |
|
|
Term
What water soluble vitamin
does not wash out easily from
the body |
|
Definition
B12 which is stored in the
liver |
|
|
Term
What will a defieciency in Vit E
lead to? |
|
Definition
Increased fragility of
erythrocytes |
|
|
Term
Where is B12 synthesized and
stored |
|
Definition
synthesized only in
microorganisms stored
primarily in liver |
|
|
Term
Where is Vit K synthesized
and what is one cause of Vit K
deficiency? |
|
Definition
synthesized by ntestinal flora
prolonged broad spectrum
antibiotic use can kill off the
flora can cause a deficiency |
|
|
