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Updated: Dec 21, 2025

Methodology for Accurate Detection of Mitochondrial DNA Methylation
Published on: May 20, 2018
Polymorphisms of genes required for methionine synthesis and DNA methylation influence mitochondrial DNA methylation
Andrea Stoccoro1, Pierpaola Tannorella1,2, Lucia Migliore1
1Department of Translational Research & of New Surgical & Medical Technologies, University of Pisa, Via Roma 55, 56126, Pisa, Italy.
Abstract:
Aim: Impaired methylation of the mitochondrial DNA and particularly in the regulatory displacement loop (D-loop) region, is increasingly observed in patients with neurodegenerative disorders. The present study aims to investigate if common polymorphisms of genes required for one-carbon metabolism (MTHFR, MTRR, MTR and RFC-1) and DNA methylation reactions (DNMT1, DNMT3A and DNMT3B) influence D-loop methylation levels. Materials & methods: D-loop methylation data were available from 133 late-onset Alzheimer's disease patients and 130 matched controls. Genotyping was performed with PCR-RFLP or high resolution melting techniques. Results: Both MTRR 66A > G and DNMT3A -448A > G polymorphisms were significantly associated with D-loop methylation levels. Conclusion: This exploratory study suggests that MTRR and DNMT3A polymorphisms influence mitochondrial DNA methylation; further research is required to better address this issue.
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