Skylar Ferguson
October 2, 2015
Biology II
Tay - Sachs disease Tay-Sachs disease is a rare disease inherited from our parents that destroys neurons in the brain and spinal cord. Also known as Hexosaminidase A deficiency, it is most commonly found in infants between the ages of 3 to 6 months. TSD is a progressively fatal disease resulting in death by time the child is 5 years old. Tay – Sachs is a disease that is not commonly found in the general population. Majority of the Tay-Sachs carriers are people of the Ashkenazi Jewish decent, Canadian communities of Quebec, Amish community of Pennsylvania, and the Cajun community of Louisiana.
There are many symptoms of TSD. Although babies appear healthy at birth many symptoms begin by the age of…show more content… “Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A (Hex-A for short) which stops the buildup of gangliosides (GM2) in nerve cells, destroying the brain” (GHR, 2012). These enzymes are found in the lysosomes, which are the recycling centers for cell, as they help break down substances. When Hex-A is fully active our bodies can produces enough enzymes to help fight the build up off GM2. Mutations interrupt this activity, preventing the enzyme to do its job and break down GM2. When toxic levels accumulate, destruction on neurons begins in the spinal cord leading to the death of Tay –…show more content… The first test is a simple eye exam. The eye exam reveals if there is a cherry red spot on the back of the eye, revealing Tay Sachs. Another test is a simple blood test.”Blood samples can be analyzed by either enzyme assay or DNA studies”(Genome, 2011). An enzyme assay measures the levels of Hex-A in a person’s blood. Doctors will be able to note if a child is diagnosed with Tay-Sachs because, carriers normally have less Hex-A in their bodies that non carriers. The last test can determine if a child may have Tay-Sachs before they are even born. “Prenatal test, such as chronic villus sampling(CVS) and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease”(Herndon,2012). During this test a sample of cells are taken from the placenta. This test can be performed anywhere between 10 to 12 weeks of pregnancy. Amniocentesis, which is the test for the actual gene, a needle is inserted into the belly and amniotic fluid is drawn. This test can take place anywhere between 15 to 18 weeks of