Term
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Definition
Any condition where a change in secondary protein structure leads to abnormal deposition of protein.
Ex: Alzheimers, Parkinson's, Atherosclerosis |
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Term
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Definition
Conformational change in prion protein.
PrP(c) (alpha helix)---> PrP(sc) (beta sheet)
Beta sheet form is insoluble leading to aggregates
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Term
| Non-disjuntion during meiosis I |
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Definition
| trisomy with 3 unique copies of chromosome |
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Term
| Non-disjunction during meiosis II |
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Definition
| trisomy with 2 identical chromosomes and one unique |
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Term
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Definition
most frequently occurs by non-disjunction in mitosis.
All women (normal) are mosaics due to x-inactivation |
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Term
| What are the survivable aneuploides? |
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Definition
13 (Patau), 18 (Edwards), 21 (Down)
13- Heart defects, nervous system, skeletalmuscular (polydactyly)
18- Kindney malformation, heart defects
21- Mental deficiencies, present with typical facial features |
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Term
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Definition
Amniocentesis - gold standard, low risk, 15-16 wks, amniotic fluid draw
Chorionic villus sample - 0.5% risk, 10-12 wks, cells from placenta
Cordocentesis - relavtively high risk, 18 wks, umbilical chord blood |
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Term
| Hereditary Non-polyposis Colorectal Cancer |
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Definition
| Lynch Syndrome, mutation in DNA mismatch repair mechanism. Accumulation of errors. |
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Term
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Definition
| DNA repair defect. Cannot excise damage caused by UV radiation. 1000x risk of cutaneous cancers. |
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Term
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Definition
| Varying impact. Too little or no globin proteins in RBCs. Decreases O2 carrying capacity |
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Term
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Definition
| Not enough Beta hemoglobin made. Most commonly caused by mutation in invariant splice sequence. |
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Term
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Definition
| Carries Shiga toxin (RNA glycosidase). Damages 28s ribosome. Eliminates enzymatic activity and halts protein synthesis |
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Term
| Hereditary Persistence of Fetal Hemoglobin |
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Definition
| fetal hemoglobin is not down-regulated, persists throughout life |
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Term
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Definition
| Enzymes are not targeted to lysosomes. Lack n-acetylglucosamine phosphotransferase (M-6-P) activity. Detection of lysosomal enzymes on blood workup. |
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Term
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Definition
| E6V (glutamate-hydrophilic to valine-hydrophobic). In deoxy state, valine residue buries into hydrophobic pocket at E-F corner. Precipitation of HbS in RBC. |
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Term
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Definition
| Absense of peroxisomes. Mutation in PAX genes. Accumulations of long chain fatty acids in cells and tissues. |
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Term
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Definition
| Immotile Cilliary Syndrome, Primary Ciliary Dyskinesia. Absence of dyneim arms in axoneme. Cilia fail to clear respiratory tract, bronchitus, sinusitis, pneumonia. |
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Term
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Definition
| 25% = Failure of nodal cilia to beat (twirl) in embryonic development due to primary ciliary diskinesia. |
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Term
| Creutzfeldt-Jakob disease |
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Definition
| Prion disease of the brain (Human mad-cow). spongiform encephalopathy |
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Term
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Definition
| Accumulation of amyloid plaques in the nervous system. Thought to be due to protein misfolding. |
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Term
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Definition
| alpha-antitrypsin is a protease inhibitor. Disease is marked by a lack of a-antitrypsin (lack of transport from rER) and uninhibited tissue breakdown (esp in lungs!). Emphysema |
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Term
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Definition
| Defect in the synthesis of collagen (types I or III). Gly->Cys in collagen. Joint hypermobility, skin hyperelasticity. |
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Term
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Definition
| Fibrillin-1 defect. Affects formation/maintenance of elastic fibers in the ECM. Tall, thin limbs, long fingers. |
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Term
| Polycystic Kidney Disease (PKD) |
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Definition
| disorder of primary cilia that are linked to mechanoreceptors in kidneys. Leads to expanding cysts in kidneys and renal cortex destruction. |
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Term
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Definition
| defect in lamin structure (progeria, dilated cardiomyopathies, etc). Disrupted nuclear shape, poor anchoring of chromatin to nuclear membrane. |
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Term
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Definition
| Rapid developing cancer of the retina due to disfunction of the cancer inhibitor retinoblastoma (RB1) |
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Term
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Definition
| Hyper-immune response. Release of massive amounts of histamine by mast cells. Bronchoconstriction and vasodilation. Treat with epinephrine. |
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Term
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Definition
| Systemic autoimmune disease. Excessive depostion of collagen in the dermis, changes in vasculature (Reynaud's phenomenon). |
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Term
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Definition
| XXY in males. Failure of puberty, feminine distribution of fat. |
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