Featured Research

from universities, journals, and other organizations

New gene mutation associated with congenital myopathy

Date:
July 25, 2012
Source:
University of Michigan Health System
Summary:
Researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene.

University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.

Related Articles


About 50% of congenital myopathy cases currently do not have a known genetic basis, presenting a clear barrier to understanding disease and developing therapy, says James Dowling, M.D., Ph.D., the paper's co-senior author and assistant professor of Pediatric Neurology at the University of Michigan's C.S. Mott Children's Hospital. Finding a new myopathy gene opens the possibility of providing a genetic explanation for disease in these individuals where no genetic cause is currently known.

In addition, "the identification of a new myopathy gene is an essential first step towards understanding why this disease occurs and how we combat its effects." says Dowling, who worked with Margit Burmeister, Ph.D. and her team from the University of Michigan's Molecular and Behavioral Neuroscience Institute to study the new myopathy gene (CCDC78).

Dowling says the gene, which has not been studied previously, is an important potential regulator of muscle function and, in particular, part of an important muscle structure called the triad.

"Many myopathies and dystrophies have abnormal triad structure/function, so finding a new gene product involved in its regulation will help researchers better understand the triad and its relationship to muscle disease," Dowling says.

Congenital myopathies are clinically and genetically heterogeneous diseases that typically become evident in childhood with hypotonia and weakness. They are associated with impaired mobility, progressive scoliosis, chronic respiratory failure and often early death.

Currently there are no known treatments or disease modifying therapies for congenital myopathies.

The researchers performed linkage analysis followed by whole exome capture and next generation sequencing in a family with congenital myopathy. They then validated the gene mutation and provided insights into the disease pathomechanisms using the zebrafish model system.

Dowling says the researchers' next step is to further model the disease using zebrafish, in the hopes that this knowledge can be translated into therapy development.

"The study provides the first descriptions of the zebrafish model, and gives insight into how we will use it," says Dowling, who also is director of the Pediatric Neuromuscular Disorders Clinic at C.S. Mott Children's Hospital.

"Once we develop and characterize a model of the disease, we can then use it as a platform for therapy development."

Funding was provided by the National Institutes of Health, the Muscular Dystrophy Association, The A. Alfred Taubman Medical Research Institute, Anderson Family Foundation.

Additional authors: Of the University of Michigan: Karen Majczenko, M.D.; Ann E. Davidson, Ph.D.; Sandra Camelo-Piragua, M.D.; Xingli Li; Sucheta Joshi, M.D.; Jishu Xu; Weiping Peng; Alan H. Beggs, Ph.D.; Jun Z. Li, Ph.D.; Margit Burmeister, Ph.D. Of Boston Children's Hospital: Pankaj B. Agrawal, Ph.D; Richard A. Manfready.


Story Source:

The above story is based on materials provided by University of Michigan Health System. Note: Materials may be edited for content and length.


Journal Reference:

  1. Karen Majczenko, AnnE. Davidson, Sandra Camelo-Piragua, PankajB. Agrawal, RichardA. Manfready, Xingli Li, Sucheta Joshi, Jishu Xu, Weiping Peng, AlanH. Beggs, JunZ. Li, Margit Burmeister, JamesJ. Dowling. Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores. The American Journal of Human Genetics, 2012; DOI: 10.1016/j.ajhg.2012.06.012

Cite This Page:

University of Michigan Health System. "New gene mutation associated with congenital myopathy." ScienceDaily. ScienceDaily, 25 July 2012. <www.sciencedaily.com/releases/2012/07/120725142503.htm>.
University of Michigan Health System. (2012, July 25). New gene mutation associated with congenital myopathy. ScienceDaily. Retrieved April 21, 2015 from www.sciencedaily.com/releases/2012/07/120725142503.htm
University of Michigan Health System. "New gene mutation associated with congenital myopathy." ScienceDaily. www.sciencedaily.com/releases/2012/07/120725142503.htm (accessed April 21, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Tuesday, April 21, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Humanoid Robot Can Recognise and Interact With People

Humanoid Robot Can Recognise and Interact With People

Reuters - Innovations Video Online (Apr. 20, 2015) An ultra-realistic humanoid robot called &apos;Han&apos; recognises and interprets people&apos;s facial expressions and can even hold simple conversations. Developers Hanson Robotics hope androids like Han could have uses in hospitality and health care industries where face-to-face communication is vital. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Labour Party Warns Britain's Health Service 'on Life Support'

Labour Party Warns Britain's Health Service 'on Life Support'

AFP (Apr. 20, 2015) Britain&apos;s opposition Labour Party Monday claimed the National Health Service (NHS) was &apos;on life support&apos; as it turned its attention to the state-run service, which is a key issue for the UK&apos;s May 7 general election. Video provided by AFP
Powered by NewsLook.com
Sierra Leone Students Back to School After Long Ebola Closure

Sierra Leone Students Back to School After Long Ebola Closure

Reuters - News Video Online (Apr. 20, 2015) After an eight-month break, children in Sierra Leone return to school for the first time since the beginning of the Ebola outbreak. Nathan Frandino reports. Video provided by Reuters
Powered by NewsLook.com
Teen E-Cigarette Use Triples, Government Debates Regulations

Teen E-Cigarette Use Triples, Government Debates Regulations

Newsy (Apr. 19, 2015) The Centers for Disease Control and Prevention says in 2014, 13.4 percent of high school students reported smoking an e-cigarette within 30 days. 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