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Functional Characterization of Mitochondrial Genome Nonsense Mutations

US National Institute on Aging grant open #nih-5R21AG082401-02

Summary

Mitochondria play an essential role in cellular function and impact human health through varied mechanisms, including energy metabolism, cell signaling, and apoptosis. Many aging-related diseases have a mitochondrial (MT) component, with studies highlighting associations with cardiovascular disease, frailty, and overall mortality. In addition to inherited variation, mitochondria experience somatic mutations at much higher rates than the nuclear genome, introducing a state of heteroplasmy, defined as having more than 1 mtDNA allele within a cell. Using whole-genome sequence data from ~200,000 s

Functional Characterization of Mitochondri…
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