Inherited dominant optic neuropathy: from clinical studies to gene function and back again

Publication date: Winter 2013 Source:Drug Discovery Today: Disease Models, Volume 10, Issue 4 Author(s): Terence Gordon Smith , Marcela Votruba Here we review how clinically driven research into the basic cellular function of the major determinant in autosomal dominant optic atrophy, Kjer's type (OPA1), has in turn, facilitated and inspired potential therapeutic endeavours in murine models. Dominant optic atrophy is one of the most frequent causes of inherited optic neuropathy and affects up to 1 in 35000. Its underlying pathophysiology gives us a remarkable insight into mitochondrial function and how this impacts on neuronal cell survival in the retina. Graphical abstract
Source: Drug Discovery Today: Disease Models - Category: Drugs & Pharmacology Source Type: research