Enrichment of Rare mtDNA Variants Among Individuals with Kidney Disease Reveals Undiagnosed Mitochondrial Disease

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Key Points

The study aims to explore the association between rare mitochondrial DNA variants and kidney disease.
Analyzed mtDNA variation in 27,747 participants from the Mount Sinai Million Health Discoveries Program.
Identified mtDNA variants using MitoVerse and classified them with MITOMAP.
Adjusted associations for age, sex, and ancestry using linked electronic health records.
Among 3,935 individuals with kidney disease, 45 carried clinically associated mtDNA variants, with 42 undiagnosed.
mtDNA variants were associated with increased odds of renal involvement (OR=1.72).
Variant analysis identified enrichment of m.1630A>G in MT-TV (OR=5.56), indicating potential clinical relevance.

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Evaluates mtDNA variants' role in kidney disease, highlighting undiagnosed mitochondrial disease cases.

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Schecter et al. (2026) studied this question.

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