Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA Mutational Analysis
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Female
  • Haplotypes
  • Humans
  • Male
  • Mitochondria, Muscle / metabolism
  • Mitochondrial Myopathies / blood
  • Mitochondrial Myopathies / genetics*
  • Muscle, Skeletal / metabolism
  • Mutation*
  • Sequence Deletion

Substances

  • DNA, Mitochondrial