Satisfactory Essays

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 research indicates that a person must have two carriers as parents for the disease to occur. Carriers, people with only one gene for the disorder are physically unaffected due to it being recessive. When both parents are carriers, each child has a 25% or ¼ chance of obtaining the disease. If only one parent is a carrier, there is no chance that the child will get the disease, but there is a 50% chance that the child will be a carrier.

My extensive research has concluded that the symptoms of the disease are:

 Blindness

 Dementia

 Deafness

 Seizures

 Paralysis

All these symptoms appear during the first six months of life following the case studies data.

The disease progresses rapidly, usually killing affected children by age three. As the damage to the nervous system progresses, an inability to swallow, difficulty in breathing and mental retardation develop. In late-onset TSD, which occurs in people who have a genetic mutation (A permanent change in the DNA sequence due to an insertion, deletion or an alteration) that is similar to that of TSD that occurs in young children. Some production of the missing enzyme occurs and life expectancy does not seem to be affected according to my research.

Medical treatment is focused mainly on managing the symptoms of late onset TSD, Anticonvulsants can be prescribed to patients with seizures and antidepressants can be used as to help with psychiatric symptoms.
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