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

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.
AuthorsSihem Souilem, Saber Chebel, Michelangelo Mancuso, Lucia Petrozzi, Gabriele Siciliano, Mahbouba FrihAyed, Faycal Hentati, Rim Amouri
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 300 Issue 1-2 Pg. 187-90 (Jan 15 2011) ISSN: 1878-5883 [Electronic] Netherlands
PMID20884012 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2010 Elsevier B.V. All rights reserved.
Chemical References
  • RNA, Mitochondrial
  • RNA, Transfer, Ile
  • RNA
  • Creatine Kinase
Topics
  • Creatine Kinase (blood)
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal (pathology)
  • Ophthalmoplegia, Chronic Progressive External (complications, enzymology, genetics, pathology)
  • Point Mutation
  • RNA
  • RNA, Mitochondrial
  • RNA, Transfer, Ile (genetics)

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