Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

TitreMitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
Type de publicationArticle de revue
AuteurCassereau, Julien , Chevrollier, Arnaud , Gueguen, Naïg, Malinge, Marie-Claire, Letournel, Franck , Nicolas, Guillaume, Richard, Laurence, Ferré, Marc , Verny, Christophe, Dubas, Frédéric, Procaccio, Vincent , Amati-Bonneau, Patrizia , Bonneau, Dominique , Reynier, Pascal
EditeurSpringer Verlag
TypeArticle scientifique dans une revue à comité de lecture
Année2009
LangueAnglais
Date2009/04/01
Numéro2
Pagination145 - 150
Volume10
Titre de la revueneurogenetics
ISSN1364-6745, 1364-6753
Mots-clésautosomal, CMT2K, complex, GDAP1, Human, mitochondrial, Molecular, Neurosciences
Résumé en anglais

Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant GDAP1 mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in fibroblasts from CMT2K patients was 40% lower than in controls, whereas the tubular mitochondria were 33% larger in diameter and the mitochondrial mass was 20% greater. Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume.

URL de la noticehttp://okina.univ-angers.fr/publications/ua244
DOI10.1007/s10048-008-0166-9
Lien vers le document

http://dx.doi.org/10.1007/s10048-008-0166-9