A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia

J Neurol Sci. 2011 Jan 15;300(1-2):187-90. doi: 10.1016/j.jns.2010.08.065. Epub 2010 Sep 29.

Abstract

We have sequenced the entire mitochondrial DNA (mtDNA) from a 54-year-old man with chronic progressive external ophthalmoplegia (PEO) and hyperCKemia. Muscle biopsy showed ragged red and SDH positive/COX negative fibres, and the biochemistry was suggestive mitochondrial respiratory chain dysfunction. Analysis of mtDNA revealed a heteroplasmic m. 4308G>A mutation in the transfer RNA isoleucine gene (MT-TI gene). Our report expands the genetic heterogeneity of PEO.

Publication types

  • Case Reports

MeSH terms

  • Creatine Kinase / blood*
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Ophthalmoplegia, Chronic Progressive External / complications
  • Ophthalmoplegia, Chronic Progressive External / enzymology
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • Point Mutation
  • RNA
  • RNA, Mitochondrial
  • RNA, Transfer, Ile / genetics*

Substances

  • RNA, Mitochondrial
  • RNA, Transfer, Ile
  • RNA
  • Creatine Kinase