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Rethinking mitochondrial heteroplasmy: selection, conflict and adaptation.

Jade R Kannangara1, Hansong Ma2, Damian K Dowling1

  • 1School of Biological Sciences, Monash University, Melbourne, Victoria3800, Australia.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
|April 2, 2026
PubMed
Summary
This summary is machine-generated.

Mitochondrial DNA (mtDNA) variation within individuals, known as heteroplasmy, may be a key driver of evolution. This genetic diversity offers adaptive potential, enhancing organismal evolution in changing environments.

Keywords:
adaptationadaptiveenvironmental changeevolutionheteroplasmymito-nuclearmitochondriamtDNAselfishselfish drive

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Area of Science:

  • Evolutionary biology
  • Genetics
  • Mitochondrial genomics

Background:

  • Mitochondrial DNA (mtDNA) variation influences species evolution, but its role within individuals is less understood.
  • Eukaryotic cells contain multiple mtDNA copies; sequence differences result in heteroplasmy, a significant source of intra-organismal genetic diversity.

Purpose of the Study:

  • To explore the evolutionary significance of heteroplasmy in animals.
  • To investigate selective pressures acting on mtDNA at the intra-individual level.
  • To assess heteroplasmy as a reservoir of adaptive potential.

Main Methods:

  • Review of natural selection shaping mtDNA dynamics at population and species levels.
  • Exploration of intra-individual selection pressures on heteroplasmy.
  • Analysis of theoretical models on paternal mtDNA transmission and heteroplasmy.

Main Results:

  • Natural selection influences mtDNA dynamics through mito-nuclear coadaptation, environmental factors, sex-specific selection, and balancing selection.
  • Heteroplasmy enables multi-level selection, potentially leading to synergistic or antagonistic evolutionary outcomes.
  • Paternal mtDNA transmission may offer adaptive benefits by increasing intra-individual mtDNA diversity.

Conclusions:

  • Heteroplasmy represents an underappreciated source of adaptive potential within organisms.
  • Intra-individual mtDNA diversity can enhance evolutionary capacity, particularly under environmental stress.
  • Understanding heteroplasmy is crucial for comprehending organismal adaptation in a changing world.