Essay on Huntington's Research

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History

Before there was any medical knowledge of Huntington’s disease (HD), it was commonly thought that those suffering from the disorder were possessed. Most societies believed those affected were perhaps witches, and anyone suffering from it was often persecuted as such or placed into exile from the society. Though, not all were treated this way, as studied by George Huntington (right) in 1846, who wrote the first thorough description of the disease in 1872. By studying one family that exhibited similar symptoms for several generations, Huntington came to the conclusion that the conditions were linked and he presented a detailed definition of the disease. He wrote that simply, the disease was hereditary, those affected are cases for psychiatry, and it only occurs in adults (the only fact which was determined false with the discovery of juvenile HD). These findings ended up sparking the interest of fellow researchers of Huntington, leading to more in-depth research of the illness way into the 20th and 21st centuries.
A major breakthrough in finding a cure came in 1983 and 1993, when the US-Venezuela Huntington’s Disease Collaborative Research Project were able to find the approximate location of the gene that caused the disease and then isolate it using genetic linkage analysis. Using this, researchers were then able to model the disease in a variety of different animals similar to the genetic makeup of humans, as they have a shorter lifespan than humans and results could be reached quicker.
Huntington’s disease, also called Huntington chorea or Huntington’s disorder, is a genetic disorder that mostly affects muscle coordination and some other related functions usually developing around 30-45 years old, but can vary depending on the person with some cases occurring in children and the elderly. The disorder is one of the most common causes of involuntary twitching movements called chorea, which is why it is sometimes referred to as such. It is also mostly found in people of Western European decent. The disease is basically a mutation of a specific gene called the Huntingtin (Htt) gene, which provides the genetic code for the protein huntingtin. This protein is not understood fully but seems to take part in the responsibility of directing the vesicles containing important molecules to the outside of the cells as it interacts with other transmitting proteins in the cells. Normal coding of the DNA sequence “CAG” repeats multiple times in an average human for the huntingtin protein to function effectively, that is usually only around 10 to 26 times. But, people with Huntington’s disease have what is commonly called mutated Huntingtin (mHtt) which causes the DNA sequence to repeat drastically up to 40 times or more. For a many years, it was thought that because the of the disruption in the functioning of the gene, huntingtin accumulation occurred eventually become toxic and caused cell death, mainly effecting the basal ganglia and causing the brain to slowly deteriorate. However, new evidence has proven that this theory is wrong and instead it is simply and expansion of the CAG resulting in a mutant form of the protein Huntingtin causing the brain cells to gradually damage through methods not yet clear.
The disease is not physically contagious and the only way that one could transmit the disease is through reproduction, since it is only found in those who inherit the gene that is passed on in an “autosomal dominate” pattern. This means that, unfortunately, everyone who inherits the gene will eventually develop the disorder. Parents with the faulty gene then have a 50% chance to pass it on to their children as well. Sadly, suicide and depression is common among those with Huntington’s disease for the expectancy lifespan with the disease is only about 15 to 20 years and as the disease progresses, the person with need constant supervision and 24-hour care.

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