Quest Magazine

MMD1: Abnormalities Found in PKM Enzyme

An abnormality in a muscle enzyme known as pyruvate kinase (PKM) has been added to the list of things that go wrong in type 1 myotonic muscular dystrophy (MMD1, or DM1), a new study has found.

MDA supported Thomas Cooper at Baylor College of Medicine in Houston on this study, which was published online in Proceedings of the National Academy of Sciences July 30, 2013.

National ALS Biorepository Pilot Study Launched

ALS Briefs: Stem Cells, Risk Factors, Emotion Processing Abnormalities

This roundup of recent amyotrophic lateral sclerosis (ALS) research and clinical trials news includes:

MDA Study Reveals ‘Cost of Illness’ for ALS, DMD, MMD

"We now have numbers to point to," said Annie Kennedy, MDA's senior vice president of advocacy. "It's not just a back-of-the-envelope calculation anymore. It's real data."

CMD, LGMD: New Light Shed on Sugar-Coating Process

Glycosylation — "sugar-coating" — of the muscle protein alpha-dystroglycan is known to be a crucial part of muscle function.

Without sufficient glycosylation, alpha-dystroglycan doesn't stick well to other proteins, and an important linkage between muscle fibers and their surroundings is disrupted.

Stars Announced For MDA Telethon This Labor Day Weekend On ABC-TV

Safeway Shoppers ‘Make A Difference’ At the Register For MDA

Jiffy Lube Service Centers Nationwide Fight Back Against Muscle Disease This August

Trial to Evaluate the Hormone Drug Acthar in ALS

A 40-person phase 2 clinical trial to test the safety and tolerability of Questcor Pharmaceuticals’ H.P. Acthar Gel (Acthar) in people with amyotrophic lateral sclerosis (ALS) has opened at a trial site in Phoenix, Ariz.

Nationwide Children’s Podcast Explores Therapy Development for DMD

In a July 2013 podcast from Nationwide Children’s Hospital in Columbus, Ohio, longtime MDA grantee Jeffrey Chamberlain discusses recent advances in the development of gene therapy (gene transfer) and stem cell therapy (transplantation) for Duchenne muscular dystrophy (DMD), the results of which may apply to other types of muscular dy

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