Epigenetic features of mitochondrial DNA

Takehiro Yasukawa, Shigeru Matsuda, Dongchon Kang

Research output: Chapter in Book/Report/Conference proceedingChapter


In recent years, cytosine methylation in mammalian mitochondrial DNA is one of the intensely studied topics in mitochondrial biology and medicine. It could profoundly impact gene expression, replication and maintenance of mitochondrial DNA, and abnormalities in mitochondrial DNA methylation might cause diseases with mitochondrial dysfunction. Therefore, elucidating whether mitochondrial DNA is methylated or not is of pivotal importance. However, despite a number of studies suggesting the occurrence of mitochondrial DNA methylation, it appears that no conclusive landscape or role of the methylation comes to consensus. On the other hand, our recent investigation revealed challenging points in studying methylation on mitochondrial DNA. This chapter will discuss these points and propose accurate estimation of the status of 5-methylcytosine in mitochondrial DNA.

Original languageEnglish
Title of host publicationThe Human Mitochondrial Genome
Subtitle of host publicationFrom Basic Biology to Disease
Number of pages15
ISBN (Electronic)9780128196564
Publication statusPublished - 2020 Jan 1
Externally publishedYes


  • 5-methylcytosine
  • 5mC
  • Bisulfite sequencing
  • DNA methyltransferase
  • DNMT
  • Mass spectrometry
  • McrBC
  • Methylation
  • Mitochondrial DNA
  • mtDNA

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


Dive into the research topics of 'Epigenetic features of mitochondrial DNA'. Together they form a unique fingerprint.

Cite this