P.104Skeletal muscle reduction of Dnm2 with antisense oligonucleotides in myotubular myopathy

Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no effective therapy is currently available. The most severe and neonatal X-linked form is known as myotubular myopathy and caused by loss-of-function mutations in Myotubularin (MTM1), while the main autosomal dominant form is due to mutations in Dynamin 2 (DNM2). We previously showed that genetic reduction of DNM2 expression in Mtm1 knockout (Mtm1KO) mice prevents development of muscle pathology. We are now investigating skeletal muscle targeting of Dnm2 reduction in mice.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Buono, A. Rob é, R. Gomez Oca, C. Koch, S. Guo, M. Depla, B. Monia, J. Laporte, L. Thielemans, B. Cowling Source Type: research