Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.

A global test for differences in heteroplasmy count by haplogroup was nominally significant ( P = 0.042), with 0.007% of the variance of heteroplasmy count explained by haplogroups in the adjusted model.

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In Black individuals, on the other hand, there was a positive trend between heteroplasmy count and overall mortality (HR 1.15; 95% CI 0.91, 1.44) but no association between MSS and overall mortality (HR 1.01; 95% CI 0.48, 2.11).

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Intriguingly, while of marginal significance, one study demonstrated that patients with clinically refractive leukemia tended to have higher rates of amino acid-altering mutations 34 .

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