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Article Dans Une Revue Neurobiology of Disease Année : 2015

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Juan Manuel Chao de La Barca
  • Fonction : Auteur
Delphine Mirebeau-Prunier
  • Fonction : Auteur
  • PersonId : 992772
Patrizia Amati-Bonneau
  • Fonction : Auteur
  • PersonId : 992769
Marc Ferré
Emmanuelle Sarzi
  • Fonction : Auteur
Céline Bris
  • Fonction : Auteur
Stéphanie Leruez
  • Fonction : Auteur
Arnaud Chevrollier
Valérie Desquiret-Dumas
  • Fonction : Auteur
  • PersonId : 991977
Naig Guegen
  • Fonction : Auteur
Christophe Verny
  • Fonction : Auteur
  • PersonId : 992773
Christian Hamel
  • Fonction : Auteur
Dan Milea
  • Fonction : Auteur
  • PersonId : 992774
Vincent Procaccio
  • Fonction : Auteur
  • PersonId : 991978
Dominique Bonneau
  • Fonction : Auteur
  • PersonId : 992770
Pascal Reynier
  • Fonction : Auteur
  • PersonId : 991986

Résumé

Mutations in the Optic Atrophy 1 gene (OPA1) were first identified in 2000 as the main cause of Dominant Optic Atrophy, a disease specifically affecting the retinal ganglion cells and the optic nerve. Since then, an increasing number of symptoms involving the central, peripheral and autonomous nervous systems, with considerable variations of age of onset and severity, have been reported in OPA1 patients. This variety of phenotypes is attributed to differences in the effects of OPA1 mutations, to the mode of inheritance, which may be mono- or bi-allelic, and eventually to somatic mitochondrial DNA mutations. The diversity of the pathophysiological mechanisms involved in OPA1-related disorders is linked to the crucial role played by OPA1 in the maintenance of mitochondrial structure, genome and function. The neurological expression of these disorders highlights the importance of mitochondrial dynamics in neuronal processes such as dendritogenesis, axonal transport, and neuronal survival. Thus, OPA1-related disorders may serve as a paradigm in the wider context of neurodegenerative syndromes, particularly for the development of novel therapeutic strategies against these diseases.

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Dates et versions

hal-01392230 , version 1 (04-11-2016)

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Citer

Juan Manuel Chao de La Barca, Delphine Mirebeau-Prunier, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, et al.. OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology. Neurobiology of Disease, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩. ⟨hal-01392230⟩

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