Tay Sachs Research Paper
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. Tay-Sachs Disease is a birth defect caused by a dysfunctional enz
yme 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. A person can find out whether or not they are carrier of the Tay-Sachs Disease by seeing a geneticist. The geneticist would take sample of a person's DNA and analyze it for the enzymes hexosaminidase A and hexosaminidase B. The geneticist would then look for mutations in the two enzymes. If a mutation is found, the person is possibly a carrier for Tay-Sachs Disease (Triggs- Raine). 9.) Campbell, Neil A. Biology. The Benjamin/Cummings Publishing Company Inc. California, 1996. ( Gave general information on Tay-Sachs, amniocentesis, and CVS.)
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Approximate Word count = 1817
Approximate Pages = 7 (250 words per page double spaced)
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