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Title: Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
Author: Cassereau, Julien
Casasnovas Pons, Carlos
Gueguen, Naïg
Malinge, Marie Claire
Guillet, Virginie
Reynier, Pascal
Bonneau, Dominique
Amati-Bonneau, Patrizia
Banchs, Isabel
Volpini Bertrán, Víctor
Procaccio, Vincent
Chevrollier, Arnaud
Keywords: Mitocondris
Proteïnes de membrana
Teixit nerviós
Membrane proteins
Nerve tissue
Issue Date: 26-Apr-2011
Publisher: Lippincott, Williams & Wilkins. Wolters Kluwer Health
Abstract: Mutations in the MFN2 gene are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a dominant axonal CMT, whereas mutations in GDAP1 are associated with recessive demyelinating CMT (CMT4A), recessive axonal CMT (AR-CMT2), and dominant axonal CMT (CMT2K). Both proteins are involved in energy metabolism and dynamics of the mitochondrial network. We have previously reported that, in fibroblasts from patients with CMT, MFN2 mutations resulted in a mitochondrial energy coupling defect, whereas dominant mutation in GDAP1 resulted in defective complex I activity. In this study, we investigated mitochondrial bioenergetics from a severely affected patient with CMT harboring combined mutations in both GDAP1 and MFN2 genes.
Note: Reproducció del document publicat a:
It is part of: Neurology, 2011, vol. 76, num. 17, p. 1524-1526
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ISSN: 0028-3878
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)

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