Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

E. Cardaioli, P. Da Pozzo, E. Malfatti, G. N. Gallus, A. Rubegni, A. Malandrini, C. Gaudiano, L. Guidi, G. Serni, G. Berti, M. T. Dotti, A. Federico

Research output: Contribution to journalArticlepeer-review

Abstract

We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G > A substitution in position 12316 of tRNALeu(CUN) gene. This change destroys a highly conserved G-C base coupling in tRNA TψC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy in different patient's tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNALeu(CUN) pathogenic mutation described up to date.

Original languageEnglish
Pages (from-to)106-109
Number of pages4
JournalJournal of the Neurological Sciences
Volume272
Issue number1-2
DOIs
Publication statusPublished - Sep 15 2008

Keywords

  • Chronic progressive external ophthalmoplegia
  • Mitochondrial DNA
  • tRNA

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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