Taking a Look at Huntington's Disease

1745 WordsFeb 4, 20187 Pages
Introduction Huntington’s disease is a neurodegenerative disorder that is inherited in an autosomal dominant fashion. The cytoplasmic protein affected in Huntington’s disease is Huntingtin, coded for by the Huntingtin gene. The mutated version of the Huntingtin protein has several degenerative consequences on the molecular level. These are mainly caused by the elongated chain of glutamines that abberantly interacts with proteins and diminishes their biological functions. The mutated protein also tends to misfold and form aggregates in neurons, diminishing normal neural functions and producing the phenotypic traits characterized by Huntington’s disease. Discovery & cause of the mutated gene The symptomotology of Huntington’s have been recognized for several hundreds of years, but the etiology was ambiguous until recently when it was discovered that an expansion in the polyglutamine tract led to misfolding (citation). Although a lot of progress has been made, the way in which the mutant Huntingtin protein damages cells is still not fully understood. The events that preceede the discovery were crucial and are a perfect example of the use of pedigrees and linkage analysis to identify the locus of the causal gene of a disease. The first step in identifying the Huntingtin gene was to use pedigrees of affected families to establish that Huntington’s disease as an autosomal dominant inheritance pattern [79]. Over 100 scientists were involved in the following 10 year Huntington’s
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