Dantrolene: An Exon Skipping Enhancing Drug

Drs. Carrie Miceli and Stan Nelson at UCLA are developing an FDA approved drug that could boost the effectiveness of exon skipping drugs that are being developed and tested for Duchenne […]

nNOS: How Important is it in Duchenne?

nNOS has been in the news lately so we asked CureDuchenne’s chief scientific advisor, Dr. Mike Kelly to answer a few questions.  Question: what is nNOS and why do we need it? nNOS […]

CureDuchenne – Clinical Trials – FDA

Following the long awaited news of Sarepta’s phase IIB results for eteplirsen and continued Phase III progress of GSK/Prosensa’s drisapersen, as well as the recent developments with PTC Therapeutics and […]

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.