Potential therapy for congenital muscular dystrophy

December 30, 2008

Reno, Nevada -- Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy. The related report by Rooney et al, "Laminin-111 restores regenerative capacity in a mouse model for alpha 7 integrin congenital myopathy," appears in the January 2009 issue of The American Journal of Pathology.

Muscular dystrophy is a group of inherited genetic diseases that cause progressive muscle weakness. In one type of muscular dystrophy, patients with mutations in the adhesion molecule alpha 7 integrin experience delayed developmental milestones and impaired mobility. There is currently no treatment or cure for alpha 7 integrin congenital myopathy.

Interactions of alpha 7 integrin with laminin, an extracellular protein found surrounding muscle fibers, promote muscle cell health and survival. Alpha 7 integrin has also been implicated in muscle repair. To determine if alpha 7 integrin is critical for muscle repair, researchers led by Dr. Dean Burkin at The University of Nevada School of Medicine examined the response to muscle damage in alpha 7 integrin-deficient mice. They found that alpha 7 integrin-deficient muscle exhibited defective muscular regeneration. Injection of laminin-111, however, restored muscle repair and regeneration.

The data from Rooney et al "indicate a critical role for the alpha7beta1 integrin and laminin in muscle repair and suggest direct muscle injections of laminin may serve as an exciting novel therapy for patients with alpha 7 integrin congenital myopathy and other muscle diseases." Dr. Burkin's group is "currently investigating the potential of this technology to treat Duchenne and other forms of muscular dystrophy. This work opens a whole new modality in therapeutics, of injecting extracellular matrix proteins to treat genetic diseases."
-end-
This work was supported by grants from the National Institutes of Health.

Rooney JE, Gurpur PB, Yablonka-Reuveni Z, and Burkin DJ: Laminin-111 restores regenerative capacity in a mouse model for alpha 7 integrin congenital myopathy. Am J Pathol 2009 174: 256-264

For press copies of the articles, please contact Dr. Angela Colmone at 301-634-7953 or acolmone@asip.org.

For more information on Dr. Burkin, please contact Anne McMillin, APR, Health Science Communications, University Health System, University of Nevada School of Medicine. T: 775.682.9254 E-mail: amcmillin@medicine.nevada.edu

The American Journal of Pathology, official journal of the American Society for Investigative Pathology, seeks to publish high-quality, original papers on the cellular and molecular biology of disease. The editors accept manuscripts that advance basic and translational knowledge of the pathogenesis, classification, diagnosis, and mechanisms of disease, without preference for a specific analytic method. High priority is given to studies on human disease and relevant experimental models using cellular, molecular, animal, biological, chemical, and immunological approaches in conjunction with morphology.

American Journal of Pathology

Related Muscular Dystrophy Articles from Brightsurf:

Using CRISPR to find muscular dystrophy treatments
A study from Boston Children's Hospital used CRISPR-Cas9 to better understand facioscapulohumeral muscular dystrophy (FSHD) and explore potential treatments by systematically deleting every gene in the genome.

Duchenne muscular dystrophy diagnosis improved by simple accelerometers
Testing for Duchenne muscular dystrophy can require specialized equipment, invasive procedures and high expense, but measuring changes in muscle function and identifying compensatory walking gait could lead to earlier detection.

New therapy targets cause of adult-onset muscular dystrophy
The compound designed at Scripps Research, called Cugamycin, works by recognizing toxic RNA repeats and destroying the garbled gene transcript.

Gene therapy cassettes improved for muscular dystrophy
Experimental gene therapy cassettes for Duchenne muscular dystrophy have been modified to deliver better performance.

Discovery points to innovative new way to treat Duchenne muscular dystrophy
Researchers at The Ottawa Hospital and the University of Ottawa have discovered a new way to treat the loss of muscle function caused by Duchenne muscular dystrophy in animal models of the disease.

Extracellular RNA in urine may provide useful biomarkers for muscular dystrophy
Massachusetts General Hospital researchers have found that extracellular RNA in urine may be a source of biomarkers for the two most common forms of muscular dystrophy, noninvasively providing information about whether therapeutic drugs are having the desired effects on a molecular level.

Tamoxifen and raloxifene slow down the progression of muscular dystrophy
Steroids are currently the only available treatment to reduce the repetitive cycles of inflammation and disease progression associated with functional deterioration in patients with muscular dystrophy (MD).

Designed proteins to treat muscular dystrophy
The cell scaffolding holds muscle fibers together and protects them from damage.

Gene-editing alternative corrects Duchenne muscular dystrophy
Using the new gene-editing enzyme CRISPR-Cpf1, researchers at UT Southwestern Medical Center have successfully corrected Duchenne muscular dystrophy in human cells and mice in the lab.

GW researcher finds genetic cause of new type of muscular dystrophy
George Washington University & St. George's University of London research, published in The American Journal of Human Genetics, outlines a newly discovered genetic mutation associated with short stature, muscle weakness, intellectual disability, and cataracts, leading researchers to believe this is a new type of congenital muscular dystrophy.

Read More: Muscular Dystrophy News and Muscular Dystrophy Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.