Huntington and the pathogenesis of Huntingtons disease (HD)
Summary :
Table of Contents
- The primary region of neurodegeneration.
- The physiological functions of normal huntingtin.
- The cause of neuronal cell death in HD.
- The specific mechanism by which mutant huntingtin triggers the apoptotic caspase cascade.
- Pathogenic mechanism in HD.
- Evidence from animal studies using mitochondrial toxins.
- Conclusion.
Abstract
huntington's disease (HD) is a progressive neurodegenerative disorder with an established genetic origin. Adult onset HD is characterized by motor dysfunction, cognitive decline and psychiatric disturbance (Ranen et al., 1993 and Harper, 1996). Initially symptoms include depression, irritable mood, and some minor involuntary movements (Young et al., 1986 and Harper, 1996). As the disease progresses, chorea becomes more evident. The most prominent characteristics of HD include a profound loss of neurons in the caudate nucleus and putamen, which together comprise the corpus striatum within the basal ganglia (Ross, 1995). HD is caused by an elongation of a polyglutamine tract in the N-terminal of the huntingtin gene placing it into the trinucleotide repeat disorders family of neurologic diseases.
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