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Updated: Jun 27, 2026

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Published on: August 15, 2025
Mitochondrial polymorphisms are associated both with increased and decreased longevity
Loredana Castri1, Mauricio Melendez-Obando, Ramon Villegas-Palma
1Dipartimento di Biologia evoluzionistica sperimentale, Università di Bologna, Bologna, Italy.
Mitochondrial DNA (mtDNA) affects human longevity, but birth era is a more significant factor. Specific mtDNA mutations like 5178A and 150T show varied associations with lifespan, with effects differing across time periods.
Area of Science:
- Genetics
- Longevity Research
- Anthropology
Background:
- Previous studies linked longevity-associated polymorphisms (LAPS) to extended lifespans by comparing long-lived individuals with general populations.
- These comparisons are flawed due to different birth periods between long-lived subjects and controls.
- Mitochondrial DNA (mtDNA) is maternally inherited and does not recombine, making it a stable genetic marker.
Purpose of the Study:
- To investigate the association between mtDNA polymorphisms and human longevity.
- To address the confounding factor of birth period in previous longevity studies.
- To identify specific mtDNA mutations influencing lifespan in a Costa Rican cohort.
Main Methods:
- Collected mtDNA from living individuals in Costa Rica.
- Traced maternal genealogy to establish ancestral mtDNA lineages.
- Compared longevity between individuals with LAPS and controls born within the same time period.
Main Results:
- Replication of some previous LAPS associations failed.
- The 5178A mutation in haplogroup D was associated with decreased longevity.
- The 150T mutation was associated with increased longevity, though significance varied by time period.
- Birth time period demonstrated a greater impact on longevity than mtDNA markers.
Conclusions:
- mtDNA composition influences human longevity.
- The impact of specific mtDNA mutations on longevity is not constant and can vary across different birth cohorts.
- Environmental and historical factors associated with birth period are more critical determinants of longevity than previously recognized mtDNA polymorphisms.
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