Tay-Sachs - Kurt Nacewicz
Tay Sachs is a fatal genetic disorder when harmful quantities of a fatty substance accumulate in the nerve cells in the brain. The fatty substances are called ganglioside GM2. Tay Sachs has three types; infantile or early onset, juvenile, and adult or late onset. It was discovered in the mid 1880’s when Dr. Tay noticed characteristic spots in the retina of babies with the problem. Each sex is equally affected with the Tay-Sachs disorder, but the same cannot be said about race. Tay-Sachs is most common in Jews of European decent. One in every 27 Jews in the United States is thought to be a carrier of Tay-Sachs. In the general population the incidence of Tay-Sachs carriers is 1 in 250.
Some symptoms of Tay-Sachs start at a very young age, at only about six months; they lose motor and mental skills, and never gain them. This followed by the baby getting paralysis and death by age 5.But if Tay-Sachs starts later in your life then the symptoms are not as serious. When you are affected with Juvenile Tay-Sachs the symptoms are similar to early onset Tay-Sachs just don’t move as fast and are not as serious. Adult onset Tay-Sachs starts much later in life and is not very serious. Some symptoms of Adult onset Tay-Sachs are muscle weakness, cramps, slurred speech, and behavioral changes.
Tay Sachs is caused by a mutation in the HEX A gene on chromosome 15. HEX A normally codes for the alpha subunit of hexosaminidase A protein. This is what is responsible or the GM2 gangliosides brake down in the nerve cells. In fact too much accumulation of GM2 in the nerve cells will be too much toxic to handle and will lead to death. It is inherited from your parents genes.. It can be illustrated and seen threw a punnet square. This is autosomal dominant and recessive, depending on what gene you get. There is no cure for Tay-Sachs the only thing you can do is get tested and stop mutation.
http://www.accelrys.com/reference/gallery/life/gm2.jpg
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