Title: Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease.

Authors: 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

Published In Neurotoxicology, (2000 Aug)

Abstract: 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 replacement of tyrosine with histidine was found in 25% of the PD case samples and in 18% of the controls. When 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 frequencies 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.

PubMed ID: 11022854

MeSH Terms: Humans; Insect Proteins/analysis; Insect Proteins/genetics*; Lymphocytes/chemistry; Mitochondria/metabolism*; Mutation, Missense/genetics; Mutation/genetics*; NADH Dehydrogenase*; Parkinson Disease/genetics*; Polymorphism, Genetic/genetics; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA