Tay-Sachs :: science

Tay-SachsThe genic disorder I have looked at in this scientific averment is Tay-Sachs infirmity or TSD, a serious, inherited fatal genius disorder. The disease is named after Warren Tay, a British ophthalmologist who commencement exposit the disease in 1881 and a New York neurologist, Bernard Sachs who get-go described the cellular changes and the genetic nature of the disease in 1887. This rargon transmissible disease is caused by a genetic mutation that leaves the body uneffective to produce an enzyme a protein that speeds up the rate at which chemical reactions repel place within the body. The enzyme is necessary for nerve cells to metabolise fat, (allow for chemical reactions to bring in place within the cell) . The enzyme involved in TSD is known as hexosaminidase A. its absence seizure allows a lipid called GM2 ganglioside to build up in the brain, destroying the nerve cells. The jam of the gene HEXA that causes the genetic disorder is 15q23-q24. Tay-Sachs is an aut osomal recessive disorder. My look into indicates that a person must have two carriers as adverts 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 small fry has a 25% or chance of obtaining the disease. If only one parent is a carrier, there is no chance that the child result stick to 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 bread and butter following the case studies data. The disease progresses rapidly, usually violent death affected children by age three. As the damage to the nervous outline 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 eonian 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. checkup treatment is focused mainly on managing the symptoms of late onset TSD, Anticonvulsants back end be prescribed to patients with seizures and antidepressants can be used as to function with psychiatric symptoms.