Mitochondrial ND1 sequence analysis and association of the T4216C mutationwith Parkinson's disease

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 cas es and 127 age/gender-matched controls. Numerous missense mutations were fo und at low frequency (<5%), whereas a thymidine to cytosine missense mutati on at position 4216 that results in the replacement of tyrosine with histid ine was found in 25% of the PD case samples and in 18% of the controls. Whe n calculated according to gender, the 4216 mutation was observed in 26% of the male cases versus 16% of male controls (Odds Ratio [OR] = 1.85; 95% CI = 0.79-4.34). In contrast, females exhibited approximately equal frequencie s among cases (22.5%) and controls (21%) yielding an OR of 1.08 (95% C.I. = 0.36-3.22). The findings indicate only a weak association of this genetic variant with PD. (C) 2000 Inter Press, Inc.