Mitochondrial dysfunction in brain and muscle pathology of Huntington's disease

Abstract

Huntington's disease (HD) is an autosomal dominant, typically late-onset neurodegenerative disease characterized by a heterogeneous phenotype involving involuntary choreiform movements, metabolic deficits, loss of motor skills, and psychiatric and cognitive impairment. Substantial evidence suggests that increased oxidative stress and mitochondrial dysfunction occur in brain and peripheral tissues of HD patients and HD experimental models. However, the precise mechanisms by which mutant huntingtin cause neurological damage remain unclear. This chapter reviews recent literature regarding the role of reactive oxygen species in mitochondrial dysfunction and HD pathogenesis with special attention on the brain and the skeletal muscle.