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 journalArticle

12 Citations (Scopus)

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

Fingerprint

Nonsense Mediated mRNA Decay
Mitochondrial Genes
Genes
Nonsense Codon
Messenger RNA
Mutation
Leigh Disease
RNA Stability
Exons
Degradation

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. / Petruzzella, Vittoria; Panelli, Damiano; Torraco, Alessandra; Stella, Alessandro; Papa, Sergio.

In: FEBS Letters, Vol. 579, No. 17, 27.07.2005, p. 3770-3776.

Research output: Contribution to journalArticle

Petruzzella, Vittoria ; Panelli, Damiano ; Torraco, Alessandra ; Stella, Alessandro ; Papa, Sergio. / Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. In: FEBS Letters. 2005 ; Vol. 579, No. 17. pp. 3770-3776.
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