Article
Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease.
Neurotoxicology - 1 Aug 2000
Kirchner S C, Hallagan S E, Farin F M, Dilley J, Costa-Mallen P, Smith-Weller T, Franklin G M, Swanson P D, Checkoway H
Abstract excerpt
Mitochondrial dysfunction originating from mutations in Complex I genes may play a role in the pathogenesis of Parkinson's disease (PD). In this study, the entire ND1 coding sequence was sequenced in 84 newly diagnosed PD cases and 127 age/gender-matched controls. Numerous missense mutations were found at low frequency (<5%), whereas a thymidine to cytosine missense mutation at position 4216 that results in the...
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