Researchers Make Progress Toward Early Identification Of Muscular Dystrophy
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), dmm.biologists.org, 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.
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