Article

Dynamics of the most common pathogenic mtDNA variant m.3243A>G demonstrate frequency-dependency in blood and positive selection in the germline

2021-02-26

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 the dynamics of m.3...

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Literature Corpus work: 117fbc9a-4819-5c36-b043-aa1a0478af38
DOI: 10.1101/2021.02.26.433045

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