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Successful regeneration of human skeletal muscle in mice

Kennedy Krieger researchers develop valid and accurate model for FSHD

2014-01-27
(Press-News.org) Contact information: Jennifer Burke
burkej@kennedykrieger.org
443-923-7329
Kennedy Krieger Institute
Successful regeneration of human skeletal muscle in mice Kennedy Krieger researchers develop valid and accurate model for FSHD Baltimore, Md. (January 27, 2014) – Researchers at the Kennedy Krieger Institute recently announced study findings showing the successful development of a humanized preclinical model for facioscapulohumeral muscular dystrophy (FSHD), providing scientists with a much needed tool to accelerate novel therapeutic research and development.

Published in Human Molecular Genetics, the study outlines the validity of a unique model that, for the first time, mirrors the gene expression and biomarker profile of human FSHD tissue. Previously, there has been no accepted preclinical model for FSHD, a complex and rare neuromuscular disorder that affects approximately 4-7 per 100,000 individuals. As a result, therapeutic development for the disorder has been stymied.

"The inability to mimic the FSHD's genetic mechanism in preclinical models has been an ongoing challenge for the research community. Without an accurate model, making the leap to clinical research commonly fails," said Kathryn Wagner MD, PhD, director of the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute in Baltimore, MD. "We believe this unique model will open the door to studying muscle regeneration over time and help better predict clinical response to therapeutic drugs."

Inspired by cancer preclinical models developed with human tumor tissue, Dr. Wagner and her research team leveraged both basic science and clinical research resources available at Kennedy Krieger to successfully regenerate grafted muscle within the models. Human bicep muscle biopsies transplanted into models survived for over 41 weeks and retained features of normal and diseased tissue.

"This model is not only applicable to genetic muscle diseases for which we lack appropriate research models, but for other acquired muscle conditions," said Wagner. "Now there will be more research possibilities related to the overall impact of age and disease on the regenerative and growth capacity of human skeletal muscle."

### The study was conducted by researchers at multiple institutions, including Johns Hopkins University School of Medicine; University of Massachusetts Medical School; Harvard Medical School; University of Maryland School of Nursing; University of Maryland School of Medicine; and Children's National Medical Center, Washington, D.C.

This research was supported by the National Institutes of Health (NIH) and the Muscular Dystrophy Association. This work was also made possible by the National Center for Research Resources (NCRR), a component of the NIH, and NIH Roadmap for Medical Research.

About the Kennedy Krieger Institute Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain, spinal cord and musculoskeletal system, the Kennedy Krieger Institute in Baltimore, MD, serves more than 20,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on the Kennedy Krieger Institute, visit http://www.kennedykrieger.org.

About the Center for Genetic Muscle Disorders The Center for Genetic Muscle Disorders at Kennedy Krieger Institute provides expert care for children and adults who have, or are at risk of developing, a muscle disorder from genetic causes, no matter the severity. The center sees children and adults with a range of disorders and diagnoses, including muscular dystrophies, congenital myopathies, and muscle diseases. It provides current interdisciplinary clinical care for patients by experts in muscle disease, while leading research programs to develop better and novel therapeutics to treat these disorders in the future.


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[Press-News.org] Successful regeneration of human skeletal muscle in mice
Kennedy Krieger researchers develop valid and accurate model for FSHD