Tay Sachs Disease Essay

716 words - 3 pages

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, decrease in motor skills, irritability, paralysis, and seizures. These symptoms usually become visible in the first three to six months in a child’s life. Although usually diagnosed in the womb, or as a child, in rare occasions, it can emerge later in life as an adult (ncbi.nlm.nih.gov).

Tay-Sachs is located on autosomal chromosomes, and is a recessive allele. The parents pass on the gene to their child. If one parent has the gene, they will pass it on to their child, and like them, the child will become a carrier. If both parents have the gene for the disease, that is when the child has the chance of not being a carrier, but actually having the disease. If two parents both with the Tay-Sachs gene conceive a child, then the child has a 25% chance of inheriting the disease, and a 50% chance of becoming a carrier, and being susceptible to passing it on to their children (See picture C) (genome.gov).

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