Tay-Sachs
The genetic disorder I have looked at in this scientific statement is Tay-Sachs disease or TSD, a serious, inherited fatal brain disorder. The disease is named after Warren Tay, a British ophthalmologist who first described the disease in 1881 and a New York neurologist, Bernard Sachs; who first described the cellular changes and the genetic nature of the disease in 1887.
This rare hereditary disease is caused by a genetic mutation that leaves the body unable to produce an enzyme; a protein that speeds up the rate at which chemical reactions take place within the body. The enzyme is necessary for nerve cells to metabolise fat, (allow for chemical reactions to take place within the cell) . The enzyme involved in TSD is known as hexosaminidase A. its absence allows a lipid called GM2 ganglioside to build up in the brain, destroying the nerve cells.
The location of the gene HEXA that causes the genetic disorder is 15q23-q24. Tay-Sachs is an autosomal recessive disorder. My......
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