Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
In 2002, paternal inheritance of muscle mitochondrial DNA (mtDNA) was reported in a patient with exercise intolerance and a mitochondrial DNA (mtDNA) mutation restricted to skeletal muscle. To evaluate whether paternal inheritance is a common phenomenon, we studied 10 sporadic patients with skeletal muscle-restricted mtDNA mutations: five harbored mtDNA point mutations in protein-coding genes and five had single mtDNA deletions. We performed haplotype analysis and direct sequencing of the hypervariable regions 1 and 2 of the D-loop in muscle and blood from the patients and, when available, in blood from their parents. We did not observe paternal inheritance in any of our patients.
Filosto
Massimiliano
M
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Mancuso
Michelangelo
M
Vives-Bauza
Cristofol
C
Vilà
Maya R
MR
Shanske
Sara
S
Hirano
Michio
M
Andreu
Antoni L
AL
DiMauro
Salvatore
S
D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000097:blood / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism; D009154:Mutation; D017384:Sequence Deletion
D004272:DNA, Mitochondrial