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The purpose of this investigation is to examine the discovery, treatment, social impact, and current research for Huntington’s disease (HD) to provide a foundation to analyze future research towards a cure. Huntington’s disease was first comprehensively described in 1872 by George Huntington. HD is an autosomal-dominant, neurodegenerative disorder that affects approximately 2.7 per 100,000. Individuals with HD present with involuntary muscle movement, cognitive decline, and personality alterations arising at a mean age of 35 years. Symptoms are subtle at first, but as the disease progresses over 15-20 years, the individual’s ability to talk diminishes and their mental abilities decline into dementia. The combination of these symptoms, typical mid-life onset, and dominant inheritance pattern has devastating social and personal impacts on the lives of patients and their families. The cause of the disorder is the inheritance of a mutation in the Huntingtin (HTT) gene. The mutation is a trinucleotide repeat expansion resulting in more than 36 CAG repeats, encoding a mutant polyglutamine domain that creates the mutant huntingtin (mHTT). The length of the polyglutamine mutation inversely correlates with the age of onset. Evidence suggests that pathogenesis at the cellular level is due to many toxic gain-of-function effects of mHTT, notably the disruption of the ubiquitin-proteasome system. There is no cure for HD currently, with treatment limited to the alleviation of chorea, palliative care, and counseling. Scientists are targeting many pathways in the development of a cure, including striatal cell replacement, prevention of mHTT aggregation, and reduction of mHTT production.
Huntington; Neurodegeneration; Pathogenesis; Treatment
Nervous System Diseases
Kerlin, Brian; Polimeni, Brandon; and Ortega, Michaelangelo, "Huntington's Disease: A Timeline" (2021). Undergraduate Research Symposium Posters. 17.