Mitochondrial impairment in patients and asymptomatic gene carriers of Huntington's disease

Background: Huntington's disease (HD) is clinically characterized by a progressive movement disorder, cognitive decline and mood disturbance. HD is caused by a CAG repeat expansion in the IT-15 gene resulting in an expanded polyglutamine stretch in the mutant huntingtin protein. The mechanism how polyglutamine expansions cause neurodegeneration is still unknown. Several lines of evidence point to impaired energy metabolism as a relevant factor in the pathogenesis of HD. Respiratory chain defects have been demonstrated in post mortem brains as well as in muscle homogenates of HD patients. Patients and Methods: We…