Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

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...

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Autores: 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
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2011
País:España
Recursos:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/178213
Acesso em linha:https://hdl.handle.net/2445/178213
Access Level:acceso abierto
Palavra-chave:Mitocondris
Proteïnes de membrana
Teixit nerviós
Genètica
Mitochondria
Membrane proteins
Nerve tissue
Genetics
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spelling Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMTCassereau, JulienCasasnovas Pons, CarlosGueguen, NaïgMalinge, Marie ClaireGuillet, VirginieReynier, PascalBonneau, DominiqueAmati-Bonneau, PatriziaBanchs, IsabelVolpini Bertrán, VíctorProcaccio, VincentChevrollier, ArnaudMitocondrisProteïnes de membranaTeixit nerviósGenèticaMitochondriaMembrane proteinsNerve tissueGeneticsMutations 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.Lippincott, Williams & Wilkins. Wolters Kluwer Health2011info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/178213Articles publicats en revistes (Ciències Clíniques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1212/WNL.0b013e318217e77dNeurology, 2011, vol. 76, num. 17, p. 1524-1526https://doi.org/10.1212/WNL.0b013e318217e77d(c) American Academy of Neurology, 2011info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1782132026-05-27T06:46:51Z
dc.title.none.fl_str_mv Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
title Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
spellingShingle Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
Cassereau, Julien
Mitocondris
Proteïnes de membrana
Teixit nerviós
Genètica
Mitochondria
Membrane proteins
Nerve tissue
Genetics
title_short Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
title_full Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
title_fullStr Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
title_full_unstemmed Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
title_sort Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT
dc.creator.none.fl_str_mv 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
author Cassereau, Julien
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Mitocondris
Proteïnes de membrana
Teixit nerviós
Genètica
Mitochondria
Membrane proteins
Nerve tissue
Genetics
topic Mitocondris
Proteïnes de membrana
Teixit nerviós
Genètica
Mitochondria
Membrane proteins
Nerve tissue
Genetics
description 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.
publishDate 2011
dc.date.none.fl_str_mv 2011
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/178213
url https://hdl.handle.net/2445/178213
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1212/WNL.0b013e318217e77d
Neurology, 2011, vol. 76, num. 17, p. 1524-1526
https://doi.org/10.1212/WNL.0b013e318217e77d
dc.rights.none.fl_str_mv (c) American Academy of Neurology, 2011
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) American Academy of Neurology, 2011
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Lippincott, Williams & Wilkins. Wolters Kluwer Health
publisher.none.fl_str_mv Lippincott, Williams & Wilkins. Wolters Kluwer Health
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Clíniques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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