Tay-Sachs Disease

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Recommended: Basic of Tay-Sachs disease

Tay-Sachs disease is a genetic disorder, eventually leading to death of the inflicted. Genetic diseases have to do with mutations in one or more than one of the genes located on a person’s chromosomes. In the case of Tay-Sachs, it is a mutation of an autosomal chromosome, specifically chromosome #15 (ncbi.nlm.nih.gov). The mutated gene is the Hex-A gene, which codes for the production of the enzyme beta-hexosaminidase A (see picture A) (ghr.nlm.nih.gov).

Tay-Sachs disease is a genetic disorder, which destroys nerve cells in the brain and spinal cord (See picture B). It is a mutation to the Hex-A gene. The enzyme created by the Hex-A gene, beta-hexosaminidase A, breaks down fatty substances called GM2 ganglioside. Because the gene is mutated and can no longer break down the substance, it eventually builds up and becomes toxic to the body. This substance destroys neurons in the brain and spinal cord leading to various symptoms many dealing with the break down of muscles and nerves (ghr.nlm.nih.gov).

Symptoms of Tay-Sachs disease can include loss of hearing and eyesight...

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