Navigation Links
Researchers find new gene mutation associated with congenital myopathy
Date:7/25/2012

Ann Arbor, Mich. 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.

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."


'/>"/>
Contact: Mary F. Masson
mfmasson@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

Related biology news :

1. Study by UC Santa Barbara researchers suggests that bacteria communicate by touch
2. UC Santa Barbara researchers discover genetic link between visual pathways of hydras and humans
3. Researchers attempt to solve problems of antibiotic resistance and bee deaths in one
4. UNH researchers find African farmers need better climate change data to improve farming practices
5. Ottawa researchers to lead world-first clinical trial of stem cell therapy for septic shock
6. Researchers uncover molecular pathway through which common yeast becomes fungal pathogen
7. Researchers print live cells with a standard inkjet printer
8. Columbia Engineering and Penn researchers increase speed of single-molecule measurements
9. Researchers reveal how a single gene mutation leads to uncontrolled obesity
10. Researchers discover novel therapy for Crohns disease
11. New paper by Notre Dame researchers describes method for cleaning up nuclear waste
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/1/2016)... Feb. 1, 2016  Wocket® smart wallet ( www.wocketwallet.com ) announces the ... Joey Fatone . Las Vegas , where ... --> Las Vegas , where Joey appeared at ... The new video ad was filmed at the Consumer Electronics Show (CES2016) ... Wocket booth to meet and greet fans. --> ...
(Date:1/22/2016)... January 22, 2016 ... addition of the  "Global Behavioral Biometric ... --> http://www.researchandmarkets.com/research/4lmf2s/global_behavioral ) has ... Behavioral Biometric Market 2016-2020"  report to ... and Markets ( http://www.researchandmarkets.com/research/4lmf2s/global_behavioral ) has announced ...
(Date:1/20/2016)... JOSE, Calif. , Jan. 20, 2016 /PRNewswire/ ... developer of human interface solutions, today announced sampling ... controller solution for wearables and small screen applications ... such as printers. Supporting round and rectangular shapes, ... S1423 offers excellent performance with moisture on screen, ...
Breaking Biology News(10 mins):
(Date:2/4/2016)... New FDA action date of July 22, 2016 ... 22, 2016   --> - New ... - Lifitegrast has the potential to be the only product ... signs and symptoms of dry eye disease in adults --> ... in the U.S. in the past decade indicated for the treatment of signs ...
(Date:2/4/2016)... , Feb. 4, 2016 Beike Biotechnology, the ... medical institutions attended a ceremony in late 2015 to ... cell therapy in 2016. --> ... Translation Platform for Personalized Cell Therapy" was hosted by ... Production Center, both subsidiaries of Beike Biotechnology Co., Ltd. ...
(Date:2/4/2016)... , Feb. 4, 2016 ContraVir Pharmaceuticals, Inc. ... the development and commercialization of targeted antiviral therapies, announced ... Investor Conference 2016, to be held February 8-9, 2016, ... Group,s 2016 Disruptive Growth & Healthcare Conference, taking place ... 10-11, 2016. James Sapirstein , Chief Executive ...
(Date:2/4/2016)... 4, 2016 Strasbourg, France ... --> Strasbourg, France , to the ... PharmaVentures is pleased to announce that it acted as an ... unit in Strasbourg, France , to the ... --> --> Transgene (Euronext: TNG), a member ...
Breaking Biology Technology: