The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene

Ann Neurol. 2003 Dec;54(6):820-3. doi: 10.1002/ana.10753.

Abstract

In a case of childhood-onset myoclonus epilepsy with "ragged-red fibers" (MERRF), a hitherto unreported mutation within the mitochondrial tRNA(Lys) gene was identified as the cause of the disease. Substitution G8361A was maternally inherited, heteroplasmic in all tissues tested, and correlated with mitochondrial dysfunction in individual muscle fibers. The growing number of MERRF-associated mutations within the tRNA(Lys) gene affirms the specific role of this mitochondrial tRNA in the pathogenesis of the disease.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Humans
  • MERRF Syndrome / genetics*
  • MERRF Syndrome / pathology
  • Male
  • Molecular Sequence Data
  • Muscle, Skeletal / pathology
  • Mutation
  • RNA / analysis
  • RNA, Transfer, Lys / genetics*

Substances

  • RNA, Transfer, Lys
  • RNA