Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Volume 1822, Issue 6, Pages 1062-1069Publisher
ELSEVIER
DOI: 10.1016/j.bbadis.2012.01.013
Keywords
Mitochondrial disorder; Respiratory chain complex I assembly; BN-PAGE; NDUFS4 gene; Leigh syndrome; Founder mutation
Funding
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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 Cl deficiency. We describe five new wNDUFS4 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. (C) 2012 Elsevier B.V. All rights reserved.
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