More evidence for non-maternal inheritance of mitochondrial DNA?

J Med Genet. 2005 Dec;42(12):957-60. doi: 10.1136/jmg.2005.033589. Epub 2005 May 27.


Background: A single case of paternal co-transmission of mitochondrial DNA (mtDNA) in humans has been reported so far.

Objective: To find potential instances of non-maternal inheritance of mtDNA.

Methods: Published medical case studies (of single patients) were searched for irregular mtDNA patterns by comparing the given haplotype information for different clones or tissues with the worldwide mtDNA database as known to date-a method that has proved robust and reliable for the detection of flawed mtDNA sequence data.

Results: More than 20 studies were found reporting clear cut instances with mtDNAs of different ancestries in single individuals. As examples, cases are reviewed from recent published reports which, at face value, may be taken as evidence for paternal inheritance of mtDNA or recombination.

Conclusions: Multiple types (or recombinant types) of quite dissimilar mitochondrial DNA from different parts of the known mtDNA phylogeny are often reported in single individuals. From re-analyses and corrigenda of forensic mtDNA data, it is apparent that the phenomenon of mixed or mosaic mtDNA can be ascribed solely to contamination and sample mix up.

Publication types

  • Letter

MeSH terms

  • DNA, Mitochondrial*
  • Fathers
  • Humans
  • Models, Genetic
  • Mothers
  • Mutation
  • Phylogeny
  • Recombination, Genetic


  • DNA, Mitochondrial