Quest Magazine

A Closer Look: Extended Eteplirsen Treatment Benefits Walking in DMD

Editor's note (July 30, 2012): This story was revised to include information about the specific mutations being targeted by eteplirsen.

Exon-Skipping Trial Results Are a 'Major Advance' in DMD Treatment

Editor's note (July 24, 2012): For a more in-depth discussion of the exon-skipping trial results, see A Closer Look: Extended Eteplirsen Treatment Benefits Walking in DMD.

Research Briefs: LGMD, Myofibrillar Myopathy

Update (Aug. 8, 2012):This story was updated to reflect the availability of a podcast on the dysferlin gene transfer study.

Zebrafish research models mimic myofibrillar myopathy

Disruption of ‘Transporter’ Protein May Underlie Neurodegeneration

Disruption of a “transporter” protein called MCT1 (also SL16A1) leads to the degeneration of muscle-controlling nerve cells (motor neurons) in animal and cell culture models of amyotrophic lateral sclerosis (ALS), an MDA-supported team of researchers has reported.

In addition, the team found that MCT1 activity is reduced in people with ALS and in mouse models of the disease. 

Study Finds ‘Less Clear’ Distinction Between Sporadic and Familial ALS

In a more than 20-year study of people with amyotrophic lateral sclerosis (ALS), a research team found that 11 percent of people with a diagnosis of sporadic ALS had mutations in genes associated with the familial form of the disease.

Research Briefs: Metabolic Muscle Diseases

New research mouse mimics McArdle disease

MD Briefs: Corrected Stem Cells, Membrane Sealants

LGMD2D mice benefit from corrected human stem cells

A multinational team of scientists successfully transplanted genetically corrected muscle stem cells derived from people with type 2D limb-girdle muscular dystrophy (LGMD2D) into LGMD2D research mice and saw better muscle function in these mice than in similar mice that didn't receive the cells.

Heart Drug Being Tested in DMD

Eplerenone, a drug commonly used to prevent scarring after a heart attack, is being tested in a phase 2-3 clinical trial to determine whether it can stop or slow heart damage in people with Duchenne muscular dystrophy (DMD).  

Eplerenone blocks scarring that over time can turn heart muscle into nonfunctioning fatty tissue.

Research Briefs: BMD, DMD, Pompe disease

PTC begins non-US study of ataluren in DMD/BMD

FA: Immune System Drug Strengthens Mice

Treatment with an engineered version of the naturally produced interferon gamma protein enhanced the ability to move, and improved balance and coordination in mice with a disease resembling Friedreich's ataxia (FA), a team of researchers has reported. In addition, treatment with interferon gamma prevented degeneration of sensory neurons (nerve cells) in the mice.

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