Polymorphisms of genes required for methionine synthesis and DNA methylation influence mitochondrial DNA methylation

Andrea Stoccoro, Pierpaola Tannorella, Lucia Migliore, Fabio Coppedè

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1003-1012
Number of pages10
JournalEpigenomics
Volume12
Issue number12
DOIs
Publication statusPublished - Jun 2020

Keywords

  • Alzheimer's disease
  • D-loop methylation
  • DNMT3A
  • mitochondrial DNA methylation
  • mitoepigenetics
  • MTHFR
  • MTR
  • MTRR
  • polymorphism
  • RFC-1

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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