Tay Sachs Disease: A Genetic Analysis

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Tay Sachs Disease is a genetic disorder where the nerve cells in the brain and spinal cords are destroyed. Although anyone can carry this genetic mutation, it is most common of people with Ashkenazi Jewish background. Approximately 1 in every 27 of their population carries the gene for Tay Sachs. The gene mutation that can cause Tay Sachs is the HEXA gene. The chromosome that contains the gene is chromosome 15. At least one or both HEXA needs to be active so that so that the body can produce enough of the enzyme so that GM2 ganglioside lipid does not build up. The pattern of inheritance is autosomal recessive pattern, meaning that the person inherits two mutated genes, one from each parent. Normally, the HEXA gene provides instructions for …show more content…
Ganglioside builds up at an abnormal rate, especially in the brain. This progressively damages the cells. Because the cells in the nervous system become enormously swollen, it disturbs the functions of the neurons. With miscommunication in the neurons. Neurons transmit signals from cell to cell. That is how communication happens. This nerve damage leads to many symptoms that treatment can help to lessen them and control them, but eventually the symptoms catch up. By the age of six months the development of the baby becomes slowed. Between three to six months the baby has muscle weakness. Between age six to ten months, the baby becomes less responsive, and loses the ability to do tasks it has previously learned. Along with that, the baby loses eye movement. The damage progresses, and by the age of four, most kids die. Since the nerves don’t properly function, they can’t do their jobs such as maintaining muscles functioning right and helping with the development of the brain. If Tay Sachs can affect adults as well, and scientists are saying that gene therapy may help late-onset patients (Pusateri, 2007). Can scientists use gene therapy for babies with this disease as well? This questions is important and relevant because gene therapy can very well be the future way of preventing diseases rather than surgery and drugs. It is a much more healthy way of completely replacing a mutated gene, and replacing it with a healthy copy. Using gene therapy for Tay Sachs, the diseased HEXA gene and can be replaced with a properly working

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