Neurobiology of Huntington’s Disease

Dillon Gilbow, Lauren Leeber and Ashley Reich
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Abstract
Huntington’s disease is a neurodegenerative disease that over 30,000 Americans currently suffer from. As of right now, there is no known cure for this debilitating disease. Huntington’s is an inherited disease, characterized by the aggregates of the misfolded protein, huntingtin. Normal huntingtin’s function is not clearly known, but when patients have more than 36 repeats of the nucleotide sequence, CAG, they then acquire the mutant form of huntingtin. Although the huntingtin protein is found throughout the body, the neuronal degeneration is selective to the corpus striatum. This exploration into the unanswered mysteries of Huntington’s disease tries to find the answer as to why mutant huntingtin only kills striatal cells. In 2009, Srinivasa et al., discovered Rhes, a striatal specific protein, that they found played a significant role in the pathway of Huntington’s disease. Rhes proteins have a strong bond with mutant huntingtin, and in order for the aggregation of mutant huntingtin to take place, this bond must be intact. Srinivasa et al., also demonstrated that cell survival is completely dependent on the aggregation of mutant huntingtin. Here, we also delved into other studies that explored the different pathways, and possible therapies and treatments for Huntington’s disease.