Term
| Who is the disease named after? |
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Definition
| Warren Tay and Bernard Sachs |
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Term
| What is Tay Sach's disease |
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Definition
| a fatal genetic disorder that causes progressive destruction of the central nervous system |
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Term
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Definition
| the absense of a vital enzyme called hexosaminidase A (Hex-A) |
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Term
| What does the lack of Hex-A do? |
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Definition
| causes the build-up of the lipid GM2 ganglioside--especially in brain cells |
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Term
| how long does a baby w/Tay-Sachs develop normally? |
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Definition
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Term
| By 2 yrs old, what is the baby afflicted w/? |
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Definition
| seizures and diminishing mental function |
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Term
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Definition
| the baby eventually becomes blind, mentally retarded, paralyzed, and unresposive to his or her environment |
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Term
| Which races are afflicted with this disorder? |
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Definition
| Ashkenazi Jews, Cajun, French Canadians |
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Term
| How does the disease work (cellularly) |
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Definition
| Hex-A is lacking in lysosomes, GM2 ganglioside builds up in lysosome and bursts it, killing cells |
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Term
| what cures/treatments are there for Tay-Sachs |
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Definition
| no cure, some treatment for seizures |
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Term
| what is wrong w/enzyme replacement therapy? |
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Definition
| the cells needing the enzyme are in the brain, which is protected by a blood-brain barrier through which enzymes cannot go |
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Term
| what tests can one take to see if one is a Tay-Sachs carrier? |
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Definition
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Term
| what are the 2 tests pregnant women can take to see if their baby has Tay-Sachs |
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Definition
| Amniocentesis (btwn 15th and 16th week of pregnancy) and Chorionic Villus Sampling (10 and 12th week) |
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Term
| how much of a ribosomes is rRna and how much is proteins? |
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Definition
| 65% rRNA and 35% ribosomal proteins (known as ribonucleoproteins or RNPs) |
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Term
| proteins synthesized by bound proteins are destined for ____ |
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Definition
| insertion into the membrane or excretion from cell |
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Term
| proteins synthesized by free proteins are destined for ____ |
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Definition
| function w/in the cytosol |
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