Duchenne muscular dystrophy, Becker muscular dystrophy, Neuromuscular Disease, DMD, BMD, NMD

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Designed proteins to treat muscular dystrophy. The cell scaffolding holds muscle fibers together and protects them from damage. Individuals who suffer from muscular dystrophy often lack essential components in this cell scaffold. As a result, their muscles lack strength and become progressively weaker. The research team of Professor Markus Regg at the Biozentrum, University of Basel, has now designed two proteins that stabilize the cell scaffolding link it to the muscle fiber and thereby restore muscle structure and function. Science Translational Medicine

Duchenne muscular dystrophy Researchers have demonstrated a genetic therapeutic technique that has the potential to treat more than half of the patients suffering from Duchenne Muscular Dystrophy (DMD). One of the challenges of treating DMD is that the disease can be caused by mutations to a number of different DNA sequences, few of which occur with any substantial frequency. The new technique gets around this sticking point by targeting a large region of the gene that contains many different mutations.

While some clinical trials are under way for drugs that restore dystrophin production from mutant genes, they only target one exon and thus can only be used for up to 13 percent of DMD cases. The new approach can theoretically target any region of the gene of any size. In this study, the researchers targeted a span of 11 exons that account for 60 percent of DMD cases.
Charles Gersbach, assistant professor of biomedical engineering at Duke University. Nature Communications

2 muscular dystrophy disorders Researchers in public health have reported in the first broad study in the United States the frequency of two muscle-weakness disorders that strike mostly boys: Duchenne muscular dystrophy and Becker muscular dystrophy. About 1 in 5,000 boys, between 5 and 9 years old, have the inherited disorders. 

"There were always some rather crude estimates of how common these muscular dystrophies are," says Paul Romitti, an epidemiologist. "It tells us that they're still an important public health concern."

Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. The most common muscular dystrophy in children is Duchenne muscular dystrophy, which predominantly affects males. Becker muscular dystrophy is similar to Duchenne, but has later onset and slower, more variable progression of symptoms. There is no cure for either disorder.

"People who have these disorders require daily attention from their families and complex-care management from health-care providers," says Romitti, professor in the UI College of Public Health. "The new data will help to estimate the cost for the parents and the health-care system. We are continuing to learn more about the total impact of these disorders on the child and the family."

Contributing authors include: Yong Zhu, former post-doctoral researcher at the UI; Soman Puzhankara, with the UI College of Public Health; Katherine James, at the University of Colorado-Aurora; Sarah Nabukera, former post-doctoral researcher at the UI; Gideon Zamba, associate professor in biostatistics at the UI; Emma Ciafaloni, at the University of Rochester; Christopher Cunniff, at the University of Arizona; Charlotte Druschel, at the New York State Department of Health and State University of New York system; Katherine Mathews, pediatrics professor at the UI; Dennis Matthews, University of Colorado-Aurora; John Meaney, University of Arizona; Jennifer Andrews, University of Arizona; Kristin Caspers Conway, associate research scientist at the UI; Deborah Fox, New York State Department of Health; Natalie Street, Melissa Adams and Julie Bolen at the Centers for Disease Control and Prevention. University of Iowa. Pediatrics

Parent Project Muscular Dystrophy and Foundation to Eradicate Duchenne Parent Project Muscular Dystrophy (PPMD) and Foundation to Eradicate Duchenne (FED) awards ReveraGen BioPharma (ReveraGen) a $1 million grant. The grant will help fund ReveraGen's VBP15, a combined action drug that addresses multiple levels of the muscle disease Duchenne muscular dystrophy (Duchenne). Parent Project Muscular Dystrophy

Genetic source of muscle weakness Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness. The child was one of six cases in which TGen sequenced -- or decoded -- the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child's symptoms.

"In all six cases of myopathy, or muscle weakness, these children had undergone extensive, expensive and invasive testing -- often over many years -- without a successful diagnosis, until they enrolled in our study," said Dr. Lisa Baumbach-Reardon, an Associate Professor of TGen's Integrated Cancer Genomics Division. "Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing," said Dr. Baumbach-Reardon. "This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test."
Molecular Genetics & Genomic Medicine

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Duchenne muscular dystrophy, Becker muscular dystrophy, Neuromuscular Disease, DMD, BMD, NMD

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