Dynamics of the most common pathogenic mtDNA variant m.3243A>G demonstrate frequency-dependency in blood and positive selection in the germline.
Melissa Franco, Sarah J. Pickett, Zoë Fleischmann, Mark Khrapko, Auden Cote‐L’Heureux, Dylan Aidlen, David F. Stein, Natasha Markuzon, Konstantin Yu. Popadin, Maxim Braverman, Dori C. Woods, Jonathan L. Tilly, Douglass M. Turnbull, Konstantin Khrapko
This paper shows that the m.3243A>G mtDNA mutation levels in blood change in a bi-phasic way with age, requiring an age correction dependent on mutation level, and finds evidence for positive germline selection of this mutation.
bioRxiv · Feb 26, 2021 · PreprintGenomics