Tay Sachs Research Paper Essay Research Paper

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Tay Sachs Research Paper Essay, Research Paper Introduction There are many genetic diseases in the world. All genetic diseases are inherited from one’s parents. Through Gregor Mendel’s studies of genetics, it is possible for people to determine whether or not an individual will inherit a genetic disease. All genetic disorders are recessive traits (Campbell). We have learned that if a parent has a genetic disease and the other parent does not have a genetic disease, all of their children will be carriers, or have the trait, of the disease. If both parents are carriers of a genetic disease, one out of the four children will get the disease. Some of the most common genetic disorders today are sickle cell anemia, muscular dystrophy, cystic fibrosis, hemophilia, and Tay-Sachs

disease. Most of the diseases usually is predominant in a race of people or in gender (Campbell). Today through modern technology, we are able to detect whether a child will have a genetic disease through the methods of amniocentesis and chorionic villa sample (Campbell). One of the genetic disorders that doesn’t receive a lot of attention is Tay-Sachs disease. Tay-Sachs can be very lethal. Discussion What is Tay-Sachs Disease? Tay-Sachs Disease is a birth defect caused by a dysfunctional enzyme that fails to breakdown group of brain lipids, or fat (Campbell). The cause of the dysfunctional enzyme is caused by a deficiency of an enzyme called Hexosominidase A, or Hex A which is suppose to break down fatty substances in the nerve cells of the brain. When the lipids, or fats,

builds up in the brains nerve cells, it leads to a slow degeneration of the cells of the nervous system, thus bringing decay of the cerebellum. This deterioration can be view on Magnetic Resonance Imaging (MRI) (webknx.com). The fatty substance that Hex A does not break down is called ganglioside GM2. Ganglioside GM2 accumulates on the brain cells and cannot be broken down. Gangliosides are made and bio-degraded quickly in the early development of the brain (www.ninds.nih). When Hex A activity is insufficient, accumulation of ganglioside GM2 in the neurons affects the functioning of the nervous system. How is Tay-Sachs Transmitted? Tay-Sachs disease, unlike other diseases, is transmitted by a person’s genetic make up. Tay- Sachs can only be transmitted if a person has both

recessive alleles for the trait (Campbell). In order for a child to get Tay-Sachs his or her parents must be carriers of the Tay-Sachs gene. Tay-Sachs carriers are not afflicted with Tay-Sachs. They can live normal and heathy lives (www.noah). If at least one parent is a carrier of the disease, two out of four off the offspring will be a carrier of the disease. If both parents are carriers of the disease, one out of four children will not be a carrier, two out of four of the children will be a carriers of the disease, and on out of four of the children will actually have the Tay-Sachs disease(www.webknx). Figure 1( www.mrcr2) is a table that shows how two carries for Tay-Sachs disease can pass either Tay-Sachs trait or Tay-Sachs Disease to their children. Figure 1 Who Gets

Tay-Sachs Disease? Tay-Sachs Disease is common among people of Eastern Europeans (Ashkenazi) Jewish decent, Cajun, and French-Canadian decent (www.noah). Although some people of French-Canadian and Cajun ancestry get Tay-Sachs, the disease is predominantly found among Ashkenazi Jews. In the United States, approximately one out of sixty thousand people who have the Tay-Sachs disease are in the Jewish population while one out of fourteen thousand are afflicted with Tay-Sachs in Israel About one out of thirty Jews in America carriers the Tay-Sachs disease trait (www.webknx). Are there Different Forms of the Tay-Sachs disease? There are different forms of Tay-Sachs. There is the common infantile Tay-Sachs, commonly called juvenile Tay-Sachs. In infantile Tay-Sachs the enzyme Hex A is