The Study Of Mitochondrial DNA Partly Point Mutations In Praecox Parkinson's Disease

Objective To test the association between mitochondrial DNA(mtDNA) point mutations and praecox parkinson's disease (PPD),and to investigate the characteristics of mtDNA mutations Chinese patients with PPD. Methods Screening mtDNA A4336C,G5460A,A10398G,A13780G point mutations in 40 patients with PPD and 48 of the controls by Polymerase Chain Reaction (PCR), dot blotting, radiant developing. And sequencing the nucleotide position (np)10256~np10577mtDNA of 20 patients with PPD and 20 subjects of the control. Results Out of the 40 patients with PPD. 20 had A10398G mutation , 50%. 6 had G5460A, 15%. 5 had A13780G,12.5%. 2 had A4336C, 5%. 19 had C10400T,47.5%. Out of the 48 controls. 7 had A10398G, 14.6%. 2 had G5460A, 4.2%. 1 had A13780G, 2.1%. 20 had C10400T,41.7%. but no anyone with A4336C was found in the controls. The ratios of A10398G,G5460A,A4336C,A13780G point mutations in the patients with PPD were separately higher than those of the controls, moreover significant difference was found in the A10398G point mutation(P<0.01 ) . No significant differences were found in the other 3 point mutations; a new synonymous mutation—C10400T was found in the study, but no significant difference. That is to say, the np10400C/T single-nucleotide polymorphisms(SNPs) of mtDNA was found in Chinese. Conclusions our results suggest there is association between mtDNA missense mutations and PPD: the A10398G missense mutation probable is one of the contributing factors leading to PPD; The highly ratio of A10398G in patients with PPD and the np10400C/T SNP are two characteristics of Chinese mtDNA in the study.