Deleterious mitochondrial heteroplasmies exhibit increased longitudinal change in variant allele fraction.

A meta-analysis demonstrates a highly significant association between deltaVAF and mortality (HR = 1.43, 95% CI 1.15–1.77, p < 0.001).

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14 , 22 Thus, it is not surprising that, despite an overall trend toward positive selection, specific deleterious variants may be selected against, as has been observed for m.3243A>G. 15 Second, both MESA and RS only included individuals > 40 years of age, precluding assessment of changes in heteroplasmy VAF during development and/or early life.

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