Article
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Brain : a journal of neurology - 1 Oct 2017
Gerber Sylvie, Charif Majida, Chevrollier Arnaud, Chaumette Tanguy, Angebault Claire, Kane Mariame Selma, Paris Aurélien, Alban Jennifer, Quiles Mélanie, Delettre Cécile, Bonneau Dominique, Procaccio Vincent, Amati-Bonneau Patrizia, Reynier Pascal, Leruez Stéphanie, Calmon Raphael, Boddaert Nathalie, Funalot Benoit, Rio Marlène, Bouccara Didier, Meunier Isabelle, Sesaki Hiromi, Kaplan Josseline, Hamel Christian P, Rozet Jean-Michel, Lenaers Guy
Abstract excerpt
Dominant optic atrophy is a blinding disease due to the degeneration of the retinal ganglion cells, the axons of which form the optic nerves. In most cases, the disease is caused by mutations in OPA1, a gene encoding a mitochondrial large GTPase involved in cristae structure and mitochondrial network fusion. Using exome sequencing, we identified dominant mutations in DNM1L on chromosome 12p11.21 in three large...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.