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| |  Study Identifies Gene Mutations in Patients With Becker Muscular Dystrophy COLUMBUS, Ohio -- January 13, 2010 -- Investigators have identified a link between specific modifications of the dystrophin gene and the age of cardiac disease onset in patients with Becker muscular dystrophy (BMD). This information could help clinicians provide early cardiac intervention for patients with BMD based on genetic testing results performed on a blood sample. The findings are published in the journal Circulation: Cardiovascular Genetics. To date, clinicians cannot predict when cardiac disease will occur in patients with BMD and which patients would most benefit from early heart screenings. “Our study findings revealed areas of gene mutation most associated with early onset of heart disease,” said lead author, Rita Wen Kaspar, Ohio State University College of Nursing, Columbus, Ohio. “By identifying which dystrophin mutations are most likely to cause early-onset heart conditions, our research could help clinicians identify at-risk patients, provide early intervention and ultimately prolong patient survival.” Investigators collected data from 78 patients with BMD or x-linked dilated cardiomyopathy from Nationwide Children’s Hospital, Ohio State University, the Utah Dystrophinopathy Project, the Leiden Open Variation Database, and published case reports. They then correlated genetic mutations with the onset age of heart disease. Federica Montanaro, PhD, the study’s corresponding author and a principal investigator, Center for Gene Therapy at Nationwide Children’s Hospital in Columbus, Ohio, described the study as an important example of collaboration between basic scientists and clinicians. “The results from this study are important at 2 levels,” said Dr. Montanaro. “First, as genetic screening becomes more widely available, clinicians will now be able to use this information to deliver more personalised care to BMD patients. Second, our findings provide new clues as to the functions of dystrophin in the heart.” “These clinical findings are now being brought back to the research laboratory to help design more effective treatments for heart disease in BMD patients as well as in children that suffer from the more severe form of this disease known as Duchenne Muscular Dystrophy,” she said.
SOURCE: Nationwide Children’s Hospital
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