A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant - 25/04/18
Doi : 10.1016/j.jpeds.2017.12.043
Fabian Baertling, MD 1, 3, ** 
, Laura Sánchez-Caballero, MSc 1, *, Mariël A.M. van den Brand 1, Felix Distelmaier, MD 3, Mirian C.H. Janssen, MD, PhD 2, Richard J.T. Rodenburg, PhD 1, Jan A.M. Smeitink, MD, PhD 1, Leo G.J. Nijtmans, PhD 1
, Laura Sánchez-Caballero, MSc 1, *, Mariël A.M. van den Brand 1, Felix Distelmaier, MD 3, Mirian C.H. Janssen, MD, PhD 2, Richard J.T. Rodenburg, PhD 1, Jan A.M. Smeitink, MD, PhD 1, Leo G.J. Nijtmans, PhD 1 1 Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
2 Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands
3 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany
*Reprint requests: Fabian Baertling, MD, Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital Düsseldorf, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany.Department of General PediatricsNeonatology,and Pediatric CardiologyUniversity Children's Hospital DüsseldorfHeinrich Heine UniversityMoorenstr. 5Düsseldorf40225Germany
Abstract |
We demonstrate that a heterozygous nuclear variant in the gene encoding mitochondrial complex I subunit NDUFV1 aggravates the cellular phenotype in the presence of a mitochondrial DNA variant in complex I subunit ND1. Our findings suggest that heterozygous variants could be more significant in inherited mitochondrial diseases than hitherto assumed.
Le texte complet de cet article est disponible en PDF.Keywords : OXPHOS, mitochondrial DNA, inherited mitochondrial disease
Abbreviations : 2D-BN-PAGE/SDS-PAGE, BN-PAGE, LHON, MRI, mtDNA, OXPHOS, SDS-PAGE
Plan
| Funded by the European Commission (FP7-PEOPLE-ITN. GA. 317433). Part of this work was financed by a grant obtained from the United Mitochondrial Disease Foundation (UMDF). F.B. was supported by a fellowship of the German Research Foundation/Deutsche Forschungsgemeinschaft (BA 5758/1-1). The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tous droits réservés.
Vol 196
P. 309 - mai 2018 Retour au numéro
Article précédent
- Torticollis in Infants with a History of Neonatal Abstinence Syndrome
- Jennifer M. McAllister, Eric S. Hall, Gayle E.R. Hertenstein, Stephanie L. Merhar, Patricia L. Uebel, Scott L. Wexelblatt
- Mercury Poisoning in a Toddler from Home Contamination due to Skin-Lightening Cream
- Michael R. Ori, Jaiva B. Larsen, Farshad “Mazda” Shirazi
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?