Genome-wide characterization of mitochondrial DNA methylation in human brain.


Matthew Devall1,2, Darren M Soanes1, Adam R. Smith1, Emma L. Dempster1,, Rebecca G. Smith1, Joe Burrage1, Artemis Iatrou1, Eilis Hannon1, Claire Troakes3, Karen Moore1, Paul O’Neill1, Safa Al-Sarraj3, Leonard Schalkwyk4, Jonathan Mill1, Michael Weedon1 & Katie Lunnon1,5


  1. University of Exeter Medical School, RILD, Barrack Road, Exeter, Devon, UK.
  2. Present Address: School of Medicine, University of Virginia, US
  3. Institute of Psychiatry, King’s College London, De Crespigny Park, London, UK
  4. School of Biological Sciences, University of Essex, Essex, UK
  5. Corresponding author


There is growing interest in the role of DNA methylation in regulating the transcription of mitochondrial genes, particularly in brain disorders characterized by mitochondrial dysfunction. However, to date a genome-wide, high-resolution analysis of the mitochondrial DNA methylome has yet to be undertaken. We have used a novel approach to interrogate the mitochondrial DNA methylome at single base resolution using targeted bisulfite sequencing. We applied this method to investigate mitochondrial DNA methylation patterns in post-mortem superior temporal gyrus and cerebellum brain tissue from seven human donors. Here you can explore mitochondria DNA methylation levels in superior temporal gyrus and cerebellum tissue along UCSC tracks. Mitochondrial DNA methylation patterns are relatively low but conserved, with peaks in DNA methylation >5% at a number of sites, such as within the D-LOOP and MT-ND5 and higher levels of methylation at non-CpG compared to CpG sites.

UCSC Genome Browser track:

Displays mean DNA methylation for superior temporal gyrus and cerebellum