Genotypes from patients indicate no paternal mitochondrial DNA contribution.
A cornerstone of mitochondrial genetics, strict maternal inheritance, has been challenged recently by the study of a patient with mitochondrial myopathy due to a sporadic 2bp deletion. The mitochondrial DNA (mtDNA) harboring the mutation was paternal in origin, whereas the patient's blood was identical to the maternal genotype. To determine whether this is a common phenomenon, we studied mtDNA sequence variation between muscle and blood from 35 patients with sporadic mitochondrial myopathies, but detected no evidence of paternal mtDNA transmission. Our findings suggest that paternal transmission of mtDNA is rare and should not alter our genetic advice to families.
Taylor
Robert W
RW
School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom.
McDonnell
Martina T
MT
Blakely
Emma L
EL
Chinnery
Patrick F
PF
Taylor
Geoffrey A
GA
Howell
Neil
N
Zeviani
Massimo
M
Briem
Egill
E
Carrara
Franco
F
Turnbull
Douglass M
DM
D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005111:Extrachromosomal Inheritance; D005220:Fathers; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000097:blood / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012016:Reference Values
D004272:DNA, Mitochondrial