Tay-Sachs Disease
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease. The ethnic group of Ashkenazi Jews, is very tightly knit. Their religion teaches them to remain among their own small group. Ashkenazi Jews rarely marry outside of their group. Ashkenazi Jews have a carrier frequency of 1 in 25. As Tay-Sachs disease is inherited as autosomal recessive traits, two carriers must breed in order to produce and offspring with Tay-Sachs. Because of the high carrier frequency in Ashkenazi Jews, they are considered to be 10 times more likely to have Tay-Sachs disease than the general population. Carrier screening is recommended pre-pregnancy in all couples in whom at least one is an Ashkenazi Jew. Lysosomes contain hydrolytic enzymes which function in the acid o
Glycosphingolipids, otherwise known as GSLs, are components of the plasma membrane of eukaryotic cells. They interact at the cell surface with toxins, viruses, bacteria, membrane-bound receptors, and enzymes. They participate in cell-type-specific adhesion processes. The products of GSL metabolism are ceramide and sphingosine. The second step of the GSL GM1 metabolism is where the buildup of GM2 gangliosides occurs. f the lysosome and are meant to be secreted not as wastes into the extracellular fluids, but as secretory proteins into an intracellular organelle. When one of these enzymes is dysfunctional, the catabolism of its macromolecule does not completely occur and there is a buildup of the macromolecule inside the lysosome. This results in great numbers of large lysosomes which begin to interfere with the normal functions of the cell. This disorder is called lysosomal storage disorder. These disorders can eventually lead to the dysfunction of the organs. The organs affected by th
Some topics in this essay:
Jew Lysosomes,
GSL GM1,
Ashkenazi Jews,
Disease Tay-Sachs,
tay-sachs disease,
gm2 gangliosides,
ashkenazi jews,
alpha-subunit location,
mutation alpha-subunit location,
cherry red spot,
location chromosome 15,
tay-sachs disease inherited,
adult-onset form,
lysosomal storage,
cause death age,
available treatment,
disease inherited,
cherry red,
juvenile-onset form,
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Approximate Word count = 674
Approximate Pages = 3 (250 words per page double spaced)
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