| Literature DB >> 22326555 |
Z Assouline1, M Jambou, M Rio, C Bole-Feysot, P de Lonlay, C Barnerias, I Desguerre, C Bonnemains, C Guillermet, J Steffann, A Munnich, J P Bonnefont, A Rötig, A S Lebre.
Abstract
Isolated complex I deficiency is a frequent cause of respiratory chain defects in childhood. In this study, we report our systematic approach with blue native PAGE (BN-PAGE) to study mitochondrial respiratory chain assembly in skin fibroblasts from patients with Leigh syndrome and CI deficiency. We describe five new NDUFS4 patients with a similar and constant abnormal BN-PAGE profile and present a meta-analysis of the literature. All NDUFS4 mutations that have been tested with BN-PAGE result in a constant and similar abnormal assembly profile with a complete loss of the fully assembled complex I usually due to a truncated protein and the loss of its canonical cAMP dependent protein kinase phosphorylation consensus site. We also report the association of abnormal brain MRI images with this characteristic BN-PAGE profile as the hallmarks of NDUFS4 mutations and the first founder NDUFS4 mutations in the North-African population.Entities:
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Year: 2012 PMID： 22326555 DOI： 10.1016/j.bbadis.2012.01.013
Source DB: PubMed Journal: Biochim Biophys Acta ISSN： 0006-3002