Huntington 's Disease And Its Effects

831 WordsOct 29, 20144 Pages
Huntington’s Disease Huntington’s is named after George Huntington who was the first person to describe the disease in 1872. However it wasn’t until 1993 that the gene that causes Huntington’s was discovered. Huntington’s is an inherited progressive disease that affects the brain and causes severe cognitive decline. The result is involuntary movements, emotional disturbance, damaged perception and memory as well as overall lowered though processing ability. We know that Huntington’s is a genetic disease because in 1993 they found the gene that causes it which happens to be chromosome 4. The function of chromosome 4 is currently unknown, however the defective gene has excessive repetition (from 40 to more than 80 times) of the sequence “CAG”. This results in a malformed protein which is prone to clump in the brain. The clumping causes nearby nerves to die creating the symptoms of Huntington’s. Prior to 1993 they knew it was genetic as it is hereditary. Sadly the Huntington gene is dominant, so each child of a Huntington carrier has a 50% chance of inheriting it. A person with Huntington’s can develop symptoms anywhere in between2 and 80, however symptoms generally appear mid-life. In the case that the child doesn’t copy the defective gene, they will neither get the disease nor be a carrier of it. Back in the 18th century when Huntington’s was first recognised it was still poorly understood, this was due to the fact that people who had the disease died before symptoms
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