Term
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Definition
| Lacking the mannose 6-phosphate (M6P) tag, lysosomal enzymes are secreted from the cell instead. |
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Term
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Definition
| lamin disorder resulting in hyposegmentation of wbcs |
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Term
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Definition
| inability to import newly formed proteins across peroxisomal membranes; newly synthesized peroxisomal enzymes remain in cytoplasm and are destroyed; peroxisomes are thus empty; myelin synthesis is affected |
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Term
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Definition
| enlarged liver, deficiency of G-6-phosphatase to convert glycogen to glucose |
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Term
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Definition
| a galactocerebrosidase deficiency. GALC is needed for myelin synthesis. |
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Term
| Three cellular structures that have been found to stain positive for ubiquitin and thus may be ubiquinated aggregates of protein |
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Definition
1. Neurofibrillary tangles in Alzheimer Disease
2. Lewy bodies in Parkinson’s disease
3. Mallory bodies in alcholic liver cirrhosis |
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Term
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Definition
| a decrease in the size and function |
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Term
| Familial hypercholesterolemia |
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Definition
| an autosomal dominant disorder caused by a mutation that encodes LDL receptors. Defective receptors lose an affinity for coated pits, so uptake of cholesterol is blocked. High cholesterol may result in MI, stroke, midlife death. |
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Term
| MERRF (Myoclonic epilepsy with ragged red fibers) |
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Definition
| a point mutation in a mitochondrial DNA gene encoding tRNA for lysine; result – deficiency in the oxidative phosphorylation chain. Neurons and muscle cells are the most affected, since they are highly dependent on mitochondrial oxidative phosphorylation. Respiratory and cardiac failure because respiratory and cardiac muscles are affected. |
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