Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease

Abstract Background It remains unclear whether the mtDNA content is related to the clinicopathological prognosis in Parkinson's disease (PD). Methods/Results We analyzed the copy number of mtDNA using quantitative real-time PCR in 414 cases with PD and 231 healthy subjects from mainland of China. The level of mtDNA was significantly decreased in PD patients' peripheral blood as compared to that of healthy controls (p   A and c.2070-64G > A in POLG1 along with mutations in POLG1 had a significantly lower copy number of mtDNA than those of PD patients without POLG1 alterations. Conclusions Our results provided evidence for a significantly lower of mtDNA copy number in PD patients and POLG1 variation for reducing mtDNA copy number in PD.