Myotonic Dystrophy Foundation

ROCHESTER, NY (May 7, 2010)  A medication most often used to treat heart arrhythmias also reduces a central symptom of myotonic dystrophy, the most common type of muscular dystrophy in adults. The findings about the medication mexiletine – a chemical cousin of lidocaine – were published May 4 in the journal Neurology, a publication of the American Academy of Neurology.

ROSEVILLE, CA (May 6, 2010) - The International Myotonic Dystrophy Organization (IMDO) announced today they are winding down their operations as a patient organization and will now be collaborating with the Myotonic Dystrophy Foundation (MDF). The goal is to bring together two of the largest myotonic dystrophy communities as both organizations look forward to emerging treatments for this disorder. "Finding a cure for myotonic dystrophy has always been a shared goal of both organizations," said Richard Weston, IMDO President. "As we have all begun to gain ground on that goal, the board of directors of the IMDO felt that this was the right time to direct our efforts into the MDF, resulting in a strong, efficient effort towards our shared mission."

HOUSTON, TX – Tiny slivers of genetic material called micro-RNAs regulate a critical event called alternative splicing in the immediate after-birth period that is crucial to proper development of the heart, said researchers at Baylor College of Medicine and the Chinese Academy of Sciences in Beijing in a report that appears in the current issue and on the cover page of the journal Genes and Development.

On Valentine's Day, 30 runners lined up at the start line of the Austin Half Marathon to raise awareness and money for myotonic dystrophy research. Their biggest cheerleader was 5 year old Jack Vassallo Fitzpatrick and the team's biggest fan was the MDF. After all, these folks were "Running For Jack" and in doing so, they raised $75,000 for the Myotonic Dystrophy Foundation's research programs.

The Myotonic Dystrophy Foundation is pleased to announce the 2010 - 2011 winner of the $100,000 "Fund-A-Fellow" postdoctoral fellowship grant. The award goes to Dr. Cameron Hilton, Ph.D., a postdoctoral fellow at the University of Oregon, working with principle investigators, Dr. Andrew Berglund and Dr. Michael Haley. Dr. Hilton's research, "Small Molecule Therapeutics Based on Pentamidine for the Treatment of Myotonic Dystrophy", aims to modify the existing drug, pentamidine to use as a safe treatment to eliminate the symptoms of myotonic dystrophy.

SANTA CRUZ, CA -- Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins.

A study published in Nature Structural & Molecular Biology shows that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role.

HOUSTON, TX  -- Using drugs to block the action of an enzyme called protein kinase C can reduce or even eliminate heart problems in mice with myotonic dystrophy, said researchers from Baylor College of Medicine in a report that appears today in the Journal of Clinical Investigation.

"The disease is very severe in these mice," said Dr. Thomas Cooper, professor of pathology and molecular and cellular biology at BCM and senior author of the report. "Eighty percent of them die within three weeks of turning on the mutation. If we give an inhibitor of protein kinase C, less than 20 percent die."

EUGENE, OR -- A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.

The five-member team reports that pentamidine, when tested in genetically altered mice, counters genetic splicing defects in RNA that lead to type 1 myotonic dystrophy -- one of nine types of muscular dystrophy -- also known as DM1 and Steinart's disease.