Article

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint

2026-06-29

Abstract excerpt

Mitochondrial diseases (MDs) are caused by variants in the mitochondrial (mtDNA) or nuclear (nDNA) genome and encompass a diverse disease spectrum, whilst mitochondrial dysfunction more broadly is implicated in aging and neurodegeneration, with distinct and overlapping phenotypic features. Recent population genomic studies reveal pathogenic MD variation to be common in the population and somatic mtDNA variants acc...

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Literature Corpus work: 3107a24c-9b19-547e-9fd4-21311614ed9d
DOI: 10.64898/2026.06.24.26356498

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