P.111Modelling autosomal dominant centronuclear myopathy in zebrafish

Mutations in DNM2, encoding dynamin 2, an ubiquitously expressed GTPase, cause the autosomal dominant centronuclear myopathy (AD-CNM). Most of the AD-CNM mutations in DNM2 (such as S619L) are gain-of-function mutations leading to an increased GTPase activity. So far, DNM2 AD-CNM mutations have only been modelled transiently in zebrafish through the injection of mutated mRNA. mRNA injected larvae disclosed a severe phenotype with structural and functional abnormalities of the triad (Gibbs et al 2013).

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Coppens, E. Dupuis, P. Gillotay, S. Costagliola Source Type: research