Association of mitochondrial variants A4336G of the tRNAGln gene and 8701G/A of the MT-ATP6 gene in Mexicans Mestizos with Parkinson disease

INTRODUCTION: Sporadic Parkinson's disease (PD) is a neurodegenerative disorder of unknown etiology. In recent years, it has been established that a genetic component underlies different forms of the disease. For instance, mitochondrial genome variants have been implicated in the pathogenesis of the PD. AIM OF THE STUDY: To determine the association of tRNA(Gln) 4336 and 8701A>G (ATP6: Thr59Ala) mitochondrial DNA polymorphisms with the presence of PD in Mexican mestizo patients. MATERIAL AND METHODS: This was a cross-sectional study in which patients were recruited from four tertiary-care level hospitals in Mexico. Genotyping was performed using real-time PCR with TaqMan genotyping assays. Genotypes were confirmed by automated sequencing. RESULTS: The 4336C allele of the tRNAGln gene was present at a low frequency, and the 8701G allele of the MT-ATP6 gene was not associated with PD. CONCLUSIONS: The 4336C variant of the tRNAGln gene was uncommon in the study population, and 8701A/G of MT-ATP6 was not associated with PD in Mexican Mestizos.