Researchers make progress toward early identification of muscular dystrophy

June 17, 2009

June 17, 2009, Cambridge, UK - The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms.

A team of University of Birmingham researchers used mice as model animals to study the key proteins involved in two types of muscular dystrophy (MD): the most severe MD form, Duchenne Muscular Dystrophy (DMD), and a more mild form, Limb Girdle MD (LGMD-1c). As described in their new report published in Disease Models & Mechanisms (DMM),, the researchers found disrupted stem cell function and delays of skeletal muscle formation in embryos of MD-like mice. .The severity of these embryonic abnormalities closely corresponded to the severity of symptoms seen in DMD or Limb Girdle MD. This study demonstrates that there are prenatal signs for muscular dystrophy, and suggests that both types of MD might be detected in utero or shortly after birth.

This work has the potential to create a better quality of life for DMD children. It is now clear that early treatment significantly improves life expectancy and quality of life for DMD children. However, diagnosis is often delayed until the disease is well under way, around ages 3-5 years, and treatment thus often begins between ages 4-8 years, when the disease is already established. This new research indicates that understanding these MD-associated proteins can lead to earlier diagnoses and treatment for DMD/LGMD patients. This in turn leads to longer life and enhanced quality of life for individuals affected by these diseases.

Duchenne Muscular Dystrophy is not only the most severe but also the most common form of muscular dystrophy. It is more commonly found in boys, at a rate of 1 in 3500. DMD causes progressive weakness in the skeletal muscles, and most DMD children require a wheelchair by age 11. DMD later results in respiratory muscle and heart muscle failure. This eventually leads to death sometime between the teenage years and early 30s, largely depending on the age that treatment is started. Whereas untreated children die around 17-18 years of age, children who are treated early live longer.
The report, "Muscular dystrophy begins early in embryonic development and derives from stem cell loss and disrupted skeletal muscle formation" was authored by Deborah Merrick, Lukas Kurt Josef Stadler, Dean Larner, and Janet Smith of the School of Biosciences, University of Birmingham, United Kingdom. The report is published in the July/August issue of Disease Models & Mechanisms (DMM), a research journal published by The Company of Biologists, a non-profit based in Cambridge, UK.

About Disease Models & Mechanisms:

Disease Models & Mechanisms (DMM) is a new research journal publishing both primary scientific research, as well as review articles, editorials, and research highlights. The journal's mission is to provide a forum for clinicians and scientists to discuss basic science and clinical research related to human disease, disease detection and novel therapies. DMM is published by the Company of Biologists, a non-profit organization based in Cambridge, UK. The Company also publishes the international biology research journals Development, Journal of Cell Science, and The Journal of Experimental Biology. In addition to financing these journals, the Company provides grants to scientific societies and supports other activities including travelling fellowships for junior scientists, workshops and conferences. The world's poorest nations receive free and unrestricted access to the Company's journals.

The Company of Biologists

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 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