Inheritance of mitochondrial DNA in humans: implications for rare and common diseases.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic search or original human data
PubMed 32187761 · doi:10.1111/joim.13047
What was done
This is a narrative review examining the mechanisms of human mitochondrial DNA (mtDNA) inheritance, heteroplasmy dynamics, germline selection, and how mtDNA mutations contribute to rare inherited disorders and common late-onset diseases like Parkinson's disease. It evaluates evidence regarding maternal inheritance and assesses whether reports of biparental transmission can be explained by nuclear-encoded mitochondrial sequences (NUMTs).
What was found
The abstract reports no original experimental numbers or statistical metrics. It highlights that human mtDNA inheritance remains strictly maternal, explaining that recent reports of biparental inheritance are likely technical artifacts arising from NUMTs in the nuclear genome. It also describes how heteroplasmy and germline selection drive variable phenotypic severity in offspring.
Why it matters
Understanding the accurate mode of mtDNA inheritance and the confounding effects of NUMTs is vital for interpreting genomic sequencing data, risk stratification, and designing interventions to treat or prevent mitochondrial pathologies.
Limits
As a narrative review, it presents no original empirical data, quantitative meta-analyses, or systematic study selection criteria. The abstract provides no specific figures, effect sizes, or population sample sizes.
Cited by
- supports Mitochondria have their own DNA that is inherited exclusively from the mother.