Article
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
Human molecular genetics - 28 Nov 2022
Franco Melissa, Pickett Sarah J, Fleischmann Zoe, Khrapko Mark, Cote-L'Heureux Auden, Aidlen Dylan, Stein David, Markuzon Natasha, Popadin Konstantin, Braverman Maxim, Woods Dori C, Tilly Jonathan L, Turnbull Doug M, Khrapko Konstantin
Abstract excerpt
The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely accepted that m.3243A > G levels decrease in blood with age, and an age correction representing ~ 2% annual decline is often applied to account for this change in mutation level. Here we report that recent data indicate that the...
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