Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

Vittoria Petruzzella, Damiano Panelli, Alessandra Torraco, Alessandro Stella, Sergio Papa

Research output: Contribution to journalArticlepeer-review

Abstract

The effect on the stability of alternative transcripts of different mutations of the NDUFS4 gene in patients with Leigh syndrome with complex I deficiency is presented. Normally, two NDUFS4 splice variants are degraded by nonsense mediated mRNA decay (NMD) while a third form does not trigger NMD degradation. In a patient with a premature termination codon in exon 1, all the three splice variants are up-regulated. The present is the first case of a nonsense mutation leading to the abrogation of NMD, which can represent an additional event to be considered in the evaluation of clinically relevant mutations.

Original languageEnglish
Pages (from-to)3770-3776
Number of pages7
JournalFEBS Letters
Volume579
Issue number17
DOIs
Publication statusPublished - Jul 27 2005

Keywords

  • Alternative splicing
  • Leigh syndrome
  • NDUFS4 gene
  • Nonsense mediated decay
  • Respiratory complex I

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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