Investigators identify gene mutations in patients with Becker muscular dystrophy

January 13, 2010, Nationwide Children's Hospital

Investigators in The Research Institute at Nationwide Children's Hospital 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 BMD patients based on genetic testing results performed on a blood sample. These findings are a result of analysis of the largest number of BMD patients to date and are published in the December issue of the journal Circulation: Cardiovascular Genetics.

Becker muscular dystrophy is a that usually begins in adolescence causing progressive muscle weakness of the legs and pelvis. Most patients - more than 70 percent - will also develop that is likely to go unnoticed until it has reached an advanced stage. To date, clinicians cannot predict when cardiac disease will occur and which patients would most benefit from early heart screenings.

"Our study findings revealed areas of most associated with early onset of heart disease," said the study's lead author, Rita Wen Kaspar, BSN, RN, a PhD student at The Ohio State University College of Nursing who conducted this research at the Center for Gene Therapy in The Research Institute at Nationwide Children's Hospital. "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, The Ohio State University, the Utah Dystrophinopathy Project, the Leiden Open Variation Database and published case reports. They then correlated with the onset age of heart disease.

Federica Montanaro, PhD, the study's corresponding author and a principal investigator in the Center for Gene Therapy at Nationwide Children's, described the study as an important example of collaboration between basic scientists and clinicians.

"The results from this study are important at two levels," explained Dr. Montanaro, also a faculty member of The Ohio State University College of Medicine. "First, as genetic screening becomes more widely available, clinicians will now be able to use this information to deliver more personalized 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 disease in BMD patients as well as in children that suffer from the more severe form of this disease known as Duchenne Muscular Dystrophy."

Related Stories

Recommended for you

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

Study advances gene therapy for glaucoma

January 16, 2018
While testing genes to treat glaucoma by reducing pressure inside the eye, University of Wisconsin-Madison scientists stumbled onto a problem: They had trouble getting efficient gene delivery to the cells that act like drains ...

How incurable mitochondrial diseases strike previously unaffected families

January 15, 2018
Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.