Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

Abstract

Mutations in the assembly chaperone BCS1L constitute a major cause of mitochondrial complex III deficiency. We studied the presence of BCS1L mutations in a complex III-deficient patient with metabolic acidosis, liver failure, and tubulopathy. A previously reported mutation, p.R56X, was identified in one BCS1L allele, and two novel heterozygous mutations, g.1181A>G and g.1164C>G, were detected in the second allele. The g.1181A>G mutation generated an alternative splicing site in the BCS1L transcript, causing a 19-nucleotides deletion in its 5'UTR region. Decreased BCS1L mRNA and protein levels, and a respiratory chain complex III assembly impairment, determine a pathogenic role for the novel BCS1L mutations.

DOI: 10.1016/j.mito.2009.04.001

Cite this paper

@article{GilBorlado2009PathogenicMI, title={Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.}, author={Mari Carmen Gil-Borlado and Maritza Gonz{\'a}lez-Hoyuela and Alberto Bl{\'a}zquez and Mar{\'i}a Teresa Garc{\'i}a-Silva and Toni Gabald{\'o}n and Javier Manzanares and Julia Vara and Miguel Angel Mart{\'i}n and Sara H Seneca and Joaqu{\'i}n Arenas and Cristina Ugalde}, journal={Mitochondrion}, year={2009}, volume={9 5}, pages={299-305} }