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DMD Gene Repair Strategy Takes a Big Step Forward

A new generation of molecules — peptide nucleic acid single-stranded oligodeoxynucleotides or PNA-ssODNs — can help cells permanently repair errors in the dystrophin gene, fixing the underlying cause of  Duchenne muscular dystrophy (DMD), researchers report.The research group, headed by MDA grantee, Carmen Bertoni, at the University of California Los Angeles (UCLA), published its findings online June 23, 2010, in the journal Human Molecular Genetics.

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Gene Therapy Success in IBM

Scientists at five U.S. institutions have successfully used gene therapy to improve muscle function in a single human subject with a hereditary form of  inclusion-body myositis (IBM)  caused by mutations of the GNE gene. Study results were published online March 30, in the Journal of Gene Medicine.

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SMN Gene Transfer Benefits Mice

A research group from the University of Sheffield in the United Kingdom has found that mice with a disease mimicking human  spinal muscular atrophy (SMA)  benefited significantly from intravenous transfer of the gene for the SMN (survival of motor neurons) protein. The mice lived significantly longer than untreated mice of the same type.

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In Focus: Central Core Disease (CCD)

This special report focuses on  central core disease (CCD), a genetic muscle disease characterized by the appearance of corelike structures running through the centers of muscle fibers. The cores are areas of metabolic inactivity.Symptoms vary widely in severity and can begin anywhere from infancy to adulthood. They include weakness, muscle cramps, orthopedic abnormalities (spinal curvature, foot deformities, hip dislocations) caused by the weakness, and a dangerous susceptibility to malignant hyperthermia, an adverse reaction to anesthesia.

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Accessible Vacation Accommodations

Here's a partial list of wheelchair-accessible accommodations available in the Beaches of South Walton area, compiled by freelance writers Barbara and Jim Twardowski.Fifteen communities make up the 26-mile stretch of Northwest Florida coast known as the Beaches of South Walton County. They are: Inlet Beach, Rosemary Beach, Alys, Seacrest, WaterSound, Seagrove, Seaside, Watercolor, Grayton, Blue Mountain, Santa Rosa, Dune Allen, Sandestin, Miramar and Seascape.

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Tadalafil Trial in Becker MD

Update (Oct. 8, 2012):  This story has been updated to reflect that the tadalafil trial in BMD has been slightly revised and is now open. In June 2012, it had temporarily closed to new participants. The investigators say the revised trial design was necessary because they were unable to obtain access to the MRI machine for the time periods that were necessary in the first design.

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DMD Research: Potential Heart Saver

A synthetic compound that seals cellular membranes has been found to stop the progression of heart-muscle destruction in dogs with a disease closely resembling human  Duchenne muscular dystrophy (DMD), MDA-supported researchers have found.MDA research grantee DeWayne Townsend at the University of Minnesota-Minneapolis and colleagues found poloxamer 188 (p188), infused into a vein in golden retrievers with a DMD-like disease, sealed fragile cardiac muscle-cell membranes and prevented the loss of cardiac muscle function (cardiomyopathy) that occurred in an untreated control group of comparable dogs.

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Gene Therapy Rescues Mice with SMA

Scientists at four U.S. institutions have successfully used gene therapy to treat very young mice with a disease resembling severe  spinal muscular atrophy (SMA).  Study results were published online Feb. 28, 2010, in the journal Nature Biotechnology.Newborn mice that received the treatment demonstrated near-normal motor function (movement) and brain-to-muscle signaling, as well as a dramatic increase in length of survival, with most living upwards of 250 days as compared to untreated mice, which had an average life span of 15 days. (None of the treated animals have succumbed to SMA so far.)

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Building New Muscle Requires Controlled Damage

Remodeling a building usually requires some degree of dismantling before new construction can begin. That principle, it now seems, also may apply to the remodeling of the body's cells. Scientists at Ottawa Hospital Research Institute and the University of Ottawa have found recently that it applies to muscle cells, which can only develop from a stemlike state into mature muscle fibers after a certain amount of their DNA has been disassembled and then rebuilt. 

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Causative Gene Mutations ID'd for Two Muscle Diseases

An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause  type 2L limb-girdle muscular dystrophy (LGMD2L)  and  type 3 Miyoshi myopathy.The results are intriguing, as they describe one of a limited number of cases in which mutations in the same gene can cause more than one muscle disorder. Mutations in the ANO5 gene can cause limb-girdle muscular dystrophy (LGMD), which is characterized as  proximal,  affecting muscles near to the center of the body (the "limb girdles"); or Miyoshi myopathy, which is characterized as a  distal  muscle disease,   affecting muscles far from the center of the body.

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