Shared Flashcard Set

Details

Genetics
Test 3 Set 2
23
Other
Graduate
02/20/2009

Additional Other Flashcards

 


 

Cards

Term
Tays Sachs
Definition
deficiency in hexosaminidase A deficiency in the alpha subunit; Infants normal at birth; signs and symptoms manifest at about 6 months of age
Exaggerated startle response to sudden sharp noises
Progressive motor and mental deterioration,  failure of motor coordination, muscular flaccidity, blindness, and increasing dementia
during the early course of the disease the characteristic cherry-red spot appears
Over a span of 1 or 2 years a complete, pathetic vegetative state is reached, followed by death at age 2 to 3 years.
Term
Sandhoff
Definition
deficiency in hexosaminidase A in the alpha and beta subunit
Term
GM2 activator deficiency
Definition
normal Hex A and Hex B, but inability to form functional GM2/GM2 activator complex
Term
15
Definition
Mutations affect the α-subunit locus on chromosome __  severe deficiency of Hexosaminidase A.
Term
mutatation in TATC (4 base pair insertion)
Definition
what is the most common mutation in Tays sachs?
Term
pseudodeficiency alleles
Definition
Tays sachs disease is complicated by ____ ____
Term
Gauchers disease
Definition
Mode of inheritance: autosomal recessive
Most prevalent lysosomal storage disorder
Affected gene encodes Glucocerebrosidase  Glucocerebroside accumulates
Primarily in the phagocytic cells of the body but in some forms also in the central nervous system
Distended phagocytic cells  a Fibrillary type of cytoplasm with the appearance of crumpled tissue paper; Signs  hepatosplenomegaly, osteoporosis, marrow replaced
Term
Gaucher's
Definition
The following are treatments for what disease; Replacement with recombinant enzymes  effective but expensive
Bone marrow transplantation
Gene therapy
Substrate deprivation  deoxynojirimycin
Term
Niemann-Pick disease
Definition
Types A and B - two related disorders
Characterized by lysosomal accumulation of Sphingomyelin
Deficiency of Sphingomyelinase
Clinical manifestations
At birth or by age 6 months
Protuberant abdomen due to hepatosplenomegaly.
Progressive failure to thrive, vomiting, fever, and generalized lymphadenopathy as well as progressive deterioration of psychomotor function
Death within the first or second year of life. No specific treatment
Term
Type A niemann pick
Definition
severe infantile form with extensive neurologic involvement
Term
Type B Niemann pick
Definition
no central nervous system involvement in this disease
Term
Fabry's disease
Definition
X-linked recessive
deficient enzyme: α-Galactosidase
increased globosides
Reddish purple skin rash, kidney and heart failure, pain in lower extremities
Term
Types Cd of Niemann pick
Definition
have nothing to do with the sphingomyelinase
Term
Metachromatic leukodystrophy
Definition
Mode of inheritance: AR
Deficient enzyme: Arylsulfatase A
 Sulfatides
Mental retardation, demyelination, progressive paralysis and dementia
Nerves stain yellowish brown with cresyl violet ( metachromasia)
Term
Farber's disease
Definition
Mode of inheritance: AR
Deficient enzyme: ceraminidase
 Ceramide
Painful joint deformities, subcutaneous nodules, tissue granulomas
Fatal in early life
Term
Krabbe's disease
Definition
Mode of inheritance: AR
Deficient enzyme: Galactosylceramidase
 Galactocerebrosides
Mental retardation, blindness, deafness, Paralysis, convulsion
Almost total absence of myelin, globoid bodies in white matter of brain
Fatal in early life
Term
mucopolysaccharides
Definition
Deficiency of one of the enzymes required for degradation  accumulation of one or glycosaminoglycans in lysosomes  mucopolysaccharidoses
Undegraded GAG’s appear in urine  can be detected by screening tests
Term
Hurler's syndrome
Definition
allelic heterogeneity due to different mutations in gene for α-L-iduronidase
MPS I H
Term
MPS II (Hunter’s syndrome)
Definition
Mode of inheritance: X-linked recessive
Deficient enzyme: Iduronate sulfatase
Clinical features similar to Hurler syndrome, but no corneal clouding
Term
Scheie’s syndrome
Definition
MPS I S deficiency
Term
I cell disease
Definition
Proteins targeted for lysosomes have a phosphorylated mannose tag
Phosphorylation of mannose residues catalyzed by two Golgi-specific enzymes.
Phosphotransferase adds GlcNAc-1-phosphate to carbon 6 of mannose
GlcNAc is removed, leaving behind mannose-6-phosphate; fibroblasts release lysosomal enzymes extracellularly
Term
mannose-6-phosphate
Definition
TGN has ___ ___ ___ receptors
Term
Mucolipidosis II
Definition
Clinical and radiographic features similar to Hurler syndrome but, presents earlier and does not show mucopolysacchariduria
Due to abnormal lysosomal enzyme transport
Newly synthesized lysosomal enzymes are secreted into extracellular medium instead of being targeted to lysosomes
Lysosomal enzymes are present at elevated levels in serum and body fluids and
affected cells show dense inclusions filled with storage materials
Supporting users have an ad free experience!