Featured Research

from universities, journals, and other organizations

Gene mutations in patients with Becker muscular dystrophy identified

Date:
January 19, 2010
Source:
Nationwide Children's Hospital
Summary:
Researchers 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.

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 genetic disorder that usually begins in adolescence causing progressive muscle weakness of the legs and pelvis. Most patients -- more than 70 percent -- will also develop cardiac disease 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 gene mutation 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 genetic mutations 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 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."

Co-authors who contributed to the study hail from the University of Utah and Washington University in St. Louis.


Story Source:

The above story is based on materials provided by Nationwide Children's Hospital. Note: Materials may be edited for content and length.


Cite This Page:

Nationwide Children's Hospital. "Gene mutations in patients with Becker muscular dystrophy identified." ScienceDaily. ScienceDaily, 19 January 2010. <www.sciencedaily.com/releases/2010/01/100113172146.htm>.
Nationwide Children's Hospital. (2010, January 19). Gene mutations in patients with Becker muscular dystrophy identified. ScienceDaily. Retrieved April 25, 2014 from www.sciencedaily.com/releases/2010/01/100113172146.htm
Nationwide Children's Hospital. "Gene mutations in patients with Becker muscular dystrophy identified." ScienceDaily. www.sciencedaily.com/releases/2010/01/100113172146.htm (accessed April 25, 2014).

Share This



More Health & Medicine News

Friday, April 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Fungus Killing Bats, Spreading in US

Deadly Fungus Killing Bats, Spreading in US

AP (Apr. 24, 2014) A disease that has killed more than six million cave-dwelling bats in the United States is on the move and wildlife biologists are worried. White Nose Syndrome, discovered in New York in 2006, has now spread to 25 states. (April 24) Video provided by AP
Powered by NewsLook.com
Companies Ramp Up Wellness to Lower Health Costs

Companies Ramp Up Wellness to Lower Health Costs

AP (Apr. 24, 2014) That little voice telling you to exercise, get in shape and get healthy is probably coming from your boss. More companies are beefing up wellness programs to try and cut down their health care costs. (April 24) Video provided by AP
Powered by NewsLook.com
Blood From World's Oldest Woman Suggests Life Limit

Blood From World's Oldest Woman Suggests Life Limit

Newsy (Apr. 24, 2014) Scientists say for the extremely elderly, their stem cells might reach a state of exhaustion. This could limit one's life span. Video provided by Newsy
Powered by NewsLook.com
FDA Wants To Ban Sales Of E-Cigarettes To Minors

FDA Wants To Ban Sales Of E-Cigarettes To Minors

Newsy (Apr. 24, 2014) The Food and Drug Administration wants to crack down on the use of e-cigarettes, banning the sale of the product to minors. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins