Term
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Definition
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Term
| Duchenne Muscular Dystrophy |
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Definition
| Dystrophin defect; cannot link actin to plasma membrane well. Membrane becomes weak/permeable and extracellular crap floods cell, exploding it. |
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Term
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Definition
| Mutant CFTR unable to interact with actin to mediate opening/closing of Cl- channel. |
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Term
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Definition
| Actin nucleation and motility are defective. Eczema, thrombocytopenia (low platelet count) and immune deficiency. |
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Term
| Shigella/Listeria bacteria |
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Definition
| bacteria hijack actin, increase infectivity |
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Term
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Definition
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Term
| Lissencephaly "smooth brain" |
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Definition
| Failure in neuronal migration due to dynein defect. Severe retardation, seizures, death by age 6 |
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Term
| Polycystic kidney disease |
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Definition
| Excess proliferation of kidney cells leads to cyst formation |
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Term
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Definition
| Dynein defect. Reversed organs (situs inversus), respiratory infections, fertility problems. |
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Term
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Definition
| Hyperphosphorylation of tau MAP protein; self-assembles to form tangles. |
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Term
| Charco-Marie-Tooth disease |
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Definition
| Neurological disorder, defect of kinesin. Loss of muscle tissue and touch sensation |
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Term
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Definition
| Receptor-mediated endocytosis fails to draw LDL into cells. LDL and its cholesterol stay in blood plasma, elevating its concentration there. Premature atherosclerosis, heart attacks, xanthomas |
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Term
| Bacterial toxin/virus/parasite invasion |
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Definition
| The toxic agent gets into the cell via Receptor-Mediated Endocytosis and is also resistant to lysosomal acidification/degredation. |
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Term
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Definition
| Phosphotransferase that tags Mannose-6-Phosphate onto lysosomal enzymes for direction into lysosome is defective. Enzymes never make it into lysosomes and are instead shunted into default constitutive secretion pathway. |
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Term
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Definition
| Lysosomal storage disease (lysosome enzyme defect) |
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Term
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Definition
| Lysosomal storage disease (lysosome enzyme defect) |
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Term
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Definition
| Lysosomal storage disease (lysosome enzyme defect) |
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Term
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Definition
| Lysosomal storage disease (lysosome enzyme defect) -> glycogen accumulation |
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Term
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Definition
| No peroxisomes formed due to peroxin gene mutation. Typical PEX problems: accumulation of VLCFA and deficiency of plasmalogen (myelin component). Fatal in first year of life. |
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Term
| X-linked Adrenoleukodystrophy |
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Definition
| Faulty protein transport into peroxisomes due to ABCD1 gene mutation in X chromosome. Typical PEX problems: accumulation of VLCFA and deficiency of plasmalogen (myelin component). Onset 5-12 yrs. Death 1-10 years after onset. Progressive neural deterioration and failure of adrenal glands to develop. |
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Term
| Leber's Hereditary Optic Neuropathy |
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Definition
Mutation in complex I in electron transport chain; leads to less effective mitochondria and reduced ATP synthesis. Also evidence that superoxide dismutase (SOD) impaired
Causes build up of superoxide radicals
Occurs in retinal ganglion cells resulting in blindness |
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Term
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Definition
| Neoplasms in bone marrow of blood cell formation |
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Term
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Definition
| Bone marrow doesn't produce enough new cells to replenish mature blood cells |
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Term
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Definition
| Reticular fiber (Collagen III) synthesizing defect. Joint dislocations & skin deformations |
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Term
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Definition
| Fibrillin (part of elastin fiber) mutation. Tissues with lots of elastin are weak/malformed. Long limbs, weak aorta |
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Term
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Definition
| Weak collagen, because of Vitamin C deficiency. Bleeding gums & bruising |
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Term
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Definition
| More rapid osteoid production than mineralization |
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Term
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Definition
| Abnormal collagen maturation in bone |
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Term
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Definition
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Term
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Definition
| Faulty mineralization (in children) |
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Term
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Definition
| More bone resorption than formation; low bone density |
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Term
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Definition
| Deterioration of cartilage & bone |
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Term
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Definition
| Deterioration of cartilage & bone |
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Term
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Definition
-single lipid bilayer
-small & spherical (.5-1um diameter) |
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Term
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Definition
-Beta oxidation of VERY long chain fatty acids
-catalase degrades H2O2 buildup
-Detox of alcohol (liver) & purines (kidney)
-Biosynthesis of myelin, bile acids, cholesterol |
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Term
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Definition
| all cells, but particularly liver & kidney |
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Term
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Definition
fission or budding
no endogenous DNA (proteins transported in via peroxins) |
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Term
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Definition
most severe peroxisome biogenesis disorder
-can't form myelin --> fatal in first year |
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Term
| X-linked adrenoleukodystrophy |
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Definition
Most common peroxisomal disorder
-Mutation in proteins that transport fatty acids in --> buildup of FAs --> death 1-10 yrs after onset |
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Term
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Definition
− 0.5-10μm
− Inner membrane (cristae e- transport)
− Outer membrane
− Intermembrane space (high H+)
− Matrix: mtDNA, ribosome, tRNA, TCA enzymes |
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Term
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Definition
− ATP synthesis
− Ca homeostasis
− Regulation of apoptosis
− β oxidation of fatty acids |
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Term
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Definition
| − Binary fission replication |
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Term
| Mitochondrial genetic defects |
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Definition
− Mt enzyme deficiency
− Mitochondrial DNA defects
− Autosomal DNA defects for mt proteins
- Heteroplasmy is when mutated & normal mitochondria aren't evenly dispersed in development; so there may be problems with just one tissue |
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Term
| Leber’s hereditary optic neuropathy |
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Definition
| loss of central vision, affects mostly males, optic nerve degeneration because not enough functional mito produce energy to maintain cells (heteroplasmy?) |
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Term
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Definition
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Term
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Definition
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Term
| Steps of the electron transport chain |
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Definition
- (I) NADH dehydrogenase: H+→intermebrane, e-→ubiquinone
- (II) FADH2 dehydrogenase (succinate): FADH2→2H + FAD-+e-(ubiquinone)
- (III) Cytochrome C reductase: H+ →intermembrane, e- (ubiquinone)→cytochrome c
- (IV) Cytochrome c oxidase: H+ →intermembrane, e- used to reduce O2 to water
- ATP synthase: H+ returns to matrix |
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Term
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Definition
Cell type conversion:
o one type of cell replaced with another type, but organization maintained. Reversible |
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Term
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Definition
Maturation abnormality
o partial loss of organization, some increase in cell #; partially reversible |
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Term
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Definition
Abnormal proliferation
o increase in cell #, loss of control; irreversible |
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Term
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Definition
-Lines free surfaces, both externally and internally (i.e. skin, sweat glands, GI, kidney tubules)
-Supported by connective tissue
-Serves as barriers
-Cells tend to be tightly packed (look for high density of nuclei) with little ECM
-Avascular
-Tend to be polarized |
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Term
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Definition
ex: bone, tendon, cartilage, blood
-Provide structural support for many other types of tissue
-Tend to have few cells (sparse density of nuclei) with lots
of ECM
-Fibroblasts are the most common type of ‘connective cell’ |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
-Specialized for rapid movement, responsive to electrical signals
-Striated (cardiac, skeletal) vs. smooth muscle
-Voluntary (skeletal) vs. involuntary (cardiac, smooth)
-Many tubular structures (vasculature, GI tract) have contractile tissue |
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Term
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Definition
-Neurons are large cells responsive for conveying electrical stimuli
-Glia are smaller supporting cells (50:50 – 90:10)
-Neuropil is cellular (not extracellular) material between cell bodies- cell processes of glia and neurons |
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Term
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Definition
| epidermis, nervous system, cornea, lens |
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Term
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Definition
| dermis, circulatory system, kidney, skeletal muscle, connective tissue, lymphatic system, excretory system, mesothelium |
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Term
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Definition
| GI (stomach, intestines, epithelial lining), lungs, liver, pancreas, bladder |
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Term
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Definition
| cytosol, intercisternal, nuclear |
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Term
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Definition
protein synthesis for extracellular, transmembrane proteins, lysoyme enzymes
post-translational modification: proteolysis, glycosylation, sulfation, folding |
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Term
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Definition
synthesis of steroids, cholesterol, trigylcerides (in liver)
detoxification
carbohydrate metabolism - glycogenolysis
Ca++ storage (in sarcoplasmic reticulum) |
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Term
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Definition
| Anterograde transport from trans ER --> Cis Golgi Network |
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Term
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Definition
anterograde & retrograde transport throughout golgi
retrograde back to trans ER
constitutive secretion
transmembrane protein |
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Term
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Definition
| vessicle coat in regulated secretion & lysosomal targeting |
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Term
| microfilament energy needs |
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Definition
| need ATP hydrolysis to breakdown, but not to grow (from - to + end) |
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Term
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Definition
alpha & beta tubulin --> heterodimer
- 13 pairs usually
Cilia/flagella = 9 doublets + 2 pairs in center
Centrioles / basal bodies = 9 triplets |
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Term
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Definition
cadherins bridge membranes
anchor to alpha & beta catenin in membrane
then connect to actin |
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Term
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Definition
'spot junctions'
cadherins connect membranes
cadherins connect to desmoplakin
desmoplakin connects to intermediate filaments (keratin) |
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Term
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Definition
-integrins span membrane
-anchor to laminin & collagen
-which bind to RGD-rich fibronectin |
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Term
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Definition
| form macrophages, microglia, osteoclasts |
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Term
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Definition
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Term
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Definition
| histamine (vasoidlator) & heparin (anticoagulant) in allergic response |
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Term
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Definition
moderate allergic response by reducing inflammation
-parasitic attack |
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Term
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Definition
plasma cells
T cells - which mature in thymus
B cells - which mature in bone marrow |
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Term
| Collagen synthesized by... |
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Definition
| fibroblasts (I, III), osteoblasts (type I), chondroblasts (type II), epithelial cells (type IV - basement membrane) |
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Term
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Definition
made of mostly type I, with some reticular & elastic fibers
mostly found around vessels & nerves, under epithelia, subcutaneous layer of skin, between organs & tissue |
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Term
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Definition
type I
tendons & ligaments |
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Term
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Definition
mostly type I collagen
protects against multidirectional force
seen in dermis, periosteum, perichondrium, heart valves |
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Term
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Definition
located on articular ends of long bone (but with no perichondrium), nose, larynx, trachea, bronchi, ribs
-made of type II collagen
surrounded by vascular perichondrium (except in articular cartilage & epiphysial plates) |
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Term
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Definition
found in ear & epiglottis
Type II collagen + elastic fibers (elastin & fibrllin) |
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Term
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Definition
found connecting ligaments & tendons to bone (enthesis)
Type I collagen
does not do appositional growth |
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Term
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Definition
function in cellular organizing
2 centrioles = centromere, which = MTOC
9 triplets
microtubules splay out from the centrioles |
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Term
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Definition
nucleus
intercisternal space
cytosol |
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Term
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Definition
Epithelial
Connective
Contractile
Neural |
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Term
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Definition
Hematoxylin: stains basophilic substances blue
Eosin: stains acidophilic substances pink |
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Term
| Nuclear Pore Complex (NPC) |
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Definition
Cytoplasmic Ring
Middle Ring
Nucleoplasmic ring |
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Term
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Definition
G1 - environment
S - DNA damage
G2 - replication completion
M - correct alignment on metaphase plate |
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Term
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Definition
1. synth proteins
2. new membrane for nucleus after cell division |
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Term
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Definition
1. detoxify drugs
2. breakdown carbs
3. synthesize steroids
4. Ca2+ dynamics in sarcoplasmic reticulum |
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Term
| Protein synth in RER steps |
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Definition
signal sequence on protein --> SRP --> SRP receptor --> translational pause while ribosome brought to ribophorins on RER --> translation continues --> signal sequence cleaved by signal peptidase --> protein released in RER
2. Misfolded --> proteases |
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Term
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Definition
- lysosome/endosomes
- plasma membrane
- secretory granules |
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Term
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Definition
transport from CGN to lysosome/endosomes
transport to secretory vessicles |
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Term
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Definition
| Anterograde from RER to CGN |
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Term
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Definition
retrograde from CGN -> RER
inter-cisternal transport
constitutive secretion |
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Term
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Definition
defective enzyme for tagging enzymes (M6P)
autosomal recessive |
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