Mutations in theNDUFS4gene of mitochondrial complex I alter stability of the splice variants
Open Access
- 4 June 2005
- journal article
- Published by Wiley in FEBS Letters
- Vol. 579 (17) , 3770-3776
- https://doi.org/10.1016/j.febslet.2005.05.035
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.Keywords
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