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 September 23, 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 September 23, 2014).

Share This



More Health & Medicine News

Tuesday, September 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Costs Keep Mounting

Ebola Costs Keep Mounting

Reuters - Business Video Online (Sep. 23, 2014) The WHO has warned up to 20,000 people could be infected with Ebola over the next few weeks. As Sonia Legg reports, the implications for the West African countries suffering from the disease are huge. Video provided by Reuters
Powered by NewsLook.com
Liberia Pleads for Help to Fight Ebola

Liberia Pleads for Help to Fight Ebola

AP (Sep. 22, 2014) Liberia's finance minister is urging the international community to quickly follow through on pledges of cash to battle Ebola. Bodies are piling up in the capital Monrovia as the nation awaits more help. (Sept. 22) Video provided by AP
Powered by NewsLook.com
Ebola Doctor Says Border Controls Critical

Ebola Doctor Says Border Controls Critical

AP (Sep. 22, 2014) A Florida doctor who helped fight the expanding Ebola outbreak in West Africa says the disease can be stopped, but only if nations quickly step up their response and make border control a priority. (Sept. 22) Video provided by AP
Powered by NewsLook.com
Global Ebola Aid Increasing But Critics Say It's Late

Global Ebola Aid Increasing But Critics Say It's Late

Newsy (Sep. 21, 2014) More than 100 tons of medical supplies were sent to West Africa on Saturday, but aid workers say the global response is still sluggish. 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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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