Description of Tay-Sachs Disease

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Tay-Sachs disease is a neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).

Epidemiology

Tay-Sachs disease is a rear inherited disorder that affects the nerve cells (neurons) in the brain as well as the spinal cord. This disease is an autosomal recessive genetic disorder rather than a sex-linked disorder like some think. In order to inherit Tay-Sachs disease, the gene must be inherited by both parents (Gravel, 2003). If the gene is inherited only by one parent, then the individuals will only be a carrier and has the potential of passing on this disease to their children. The odds of inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003).

Hex-A is a protein that helps break down a chemical found in the nerve tissue that is called gangliosides. Tay-Sachs disease develops when the body lacks Hex-A (Gravel, 2003). The Hex-A protein is essential and without this protein gangliosides known as GM2, build up in the cells, especially the brain cells. Anyone can be affected by this disease but the population most prominent to this disease...

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Works Cited

Gravel, Roy A. (2003). "Tay-Sachs Disease." Genetics.

Jose Americo, F. F., & Shapiro, B. E. (2004). Tay-sachs disease. Archives of Neurology, 61(9), 1466-1468.

Lerner, K. L. & Lerner, B. W., (2008). Tay-Sachs disease. The Gale Encyclopedia of Science (4th ed.). Detroit

MacQueen, G. M., Rosebush, P. I., & Mazurek, M. F. (1998). Neuropsychiatric aspects of the adult variant of tay-sachs disease. The Journal of Neuropsychiatry and Clinical Neurosciences, 10(1), 10-9. Retrieved from

Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from

Sargeant, T.J., Drage, D.J., Wang, S., Apostolakis, A.A., Cox, T.M., et al. (2012) Characterization of Inducible Models of Tay-Sachs and Related Disease. PLoS Genet 8(9): e1002943. doi:10.1371/journal.pgen.1002943

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