Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.

A recent paper from Elisabeth Rumeur and colleagues (https://www.ojrd.com/content/pdf/1750-1172-7-45.pdf) introduces a new database (https://edystrophin.genouest.org/) that is made freely available for public access. It contains information from 945 clinical reports.

The eDystrophin database compliments two other databases of DMD human mutations: the Leiden Muscular Dystrophy database and the UMD-DMD French database. The eDystrophin database is specifically dedicated to providing information about in-frame mutations (deletions, duplications and substitutions) of the DMD gene and the consequences of these alterations from a clinical perspective and a protein structure perspective.
The database is user friendly and informative and should be a source of much needed information for researchers, parents and patients alike.

Inhibiting myostatin reverses muscle fibrosis through apoptosis.

Myostatin is both a regulator of muscle growth and a stimulator of muscle fibroblasts to proliferate; and there is an accumulating body of evidence that demonstrates inhibition of myostatin/ActRIIB signaling can ameliorate the pathology and function of dystrophic muscle in preclinical models of Duchene muscular dystrophy.

Sphingosine-1-Phosphate Enhances Satellite Cell Activation in Dystrophic Muscles through a S1PR2/STAT3 Signaling Pathway

A recent publication from Dr. Julie Saba et al., (Children’s Hospital Oakland Research Institute, Oakland, California, reference https://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0037218) highlights the role played by the signaling lipid sphingosine-1-phosphate (S1P) in controlling the fate of satellite cells (muscle stem cells) in mdx mice.