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Infographics · 2026-09-23

Mitochondrial dysfunction genes: key variants and interpretation

Key genes, common variants, what they may mean, and how they can influence energy, oxidative stress and healthy aging. Antioxidant defense: SOD2 (rs4880) — mitochondrial antioxidant defense; GPX1 (rs1050450) — helps neutralize peroxides; NQO1 (rs1800566) — supports quinone detoxification and antioxidant recycling. Energy production and metabolic efficiency: UCP2 (rs659366), UCP3 (rs1800849), PPARGC1A/PGC-1α (rs8192678). Mitochondrial maintenance and signaling: TFAM (rs1937) — mtDNA maintenance and mitochondrial replication; SIRT3 (rs11246020) — mitochondrial stress response and energy regulation. How to interpret: these variants suggest tendencies, not a diagnosis; multiple variants together may contribute to lower resilience, fatigue or slower recovery; sleep, exercise, nutrition and inflammation strongly modify the outcome; results should be interpreted together with symptoms and laboratory data by a qualified health professional. Educational use only.

  • mitochondria
  • genes
  • genetic variants
  • SOD2
  • UCP2
  • PPARGC1A
  • TFAM
  • SIRT3
  • oxidative stress
  • energy
  • healthy aging
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Mitochondrial dysfunction genes: key variants and interpretation

Genetics University

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