title: No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations.
abstract: With the publication of a patient with severe exercise intolerance, in whom the mutated mtDNA in muscle was shown to be paternally inherited, the strict maternal inheritance of mtDNA was challenged. Paternal mtDNA inheritance may have gone unrecognized in cases of mitochondrial disease with no clear maternal pattern of inheritance because mitochondrial haplotypes are rarely investigated in diagnostic analyses. To find further evidence for a paternal inheritance of mtDNA, we reinvestigated 12 patients with mitochondrial myopathy, in whom the pathogenic mutation was known to be sporadic. We compared the mtDNA haplotypes from the patient's muscle with that of the mtDNA haplotypes in blood from either the mother or the patient. No evidence of paternal inheritance of mtDNA was found in this small study. Although these findings indicate that the paternal inheritance of mtDNA is rare, they do not rule out that the phenomenon may occur at a rate that could still affect genetic counselling and anthropological research.
authors.affiliation: Department of Clinical Genetics 4062, National University Hospital, Righospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. Schwartz@rh.dk
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics*; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D004272:DNA, Mitochondrial