Tay-Sachs Disease Analysis

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Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken. Affected infants can’t turn over, sit, or crawl. They also get startled easy to loud noises. As the disease continues they can experience seizures, vision loss, hearing loss, intellectual disability, and even paralysis. Usually they live into only early childhood. Seizures becomes a problem between ages two and five, with death at around fifteen years of age. Age of death is usually between 2 and 4 years, often from pneumonia. There is no treatment for…show more content…
The HEXA gene provides instruction for making part of an enzyme called beta-hexosaminidase A, which plays a very critical role in the brain and spinal cord. This enzyme is found in the lysosomes, which are the structures in cells that break down toxic substances and their job is that of a recycling center. Beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. The mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in the neutrons in the brain and also the spinal cord. Damage by the buildup of GM2 ganglioside leads to the destruction of the neurons; Causing signs and symptoms of Tay-Sachs disease. Symptoms of Tay-Sachs disease include Deafness, Decreased eye contact, blindness, Decreased muscle tone (loss of muscle strength), Delayed mental and social skills, Dementia, Increased startle reaction, Irritability, Listlessness, Loss of motor skills, Paralysis or loss of muscle function, Seizures, Slow growth, and Unable to swallow. You can only get Tay-Sachs disease if both parents are
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