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:2/3/2017)... 2017 A new independent identity strategy consultancy ... (IdSP) . Designed to fill a critical niche in ... founding partners Mark Crego and Janice ... in identity expertise that span federal governments, the 9/11 ... Crego-Kephart combined expertise has a common theme born from ...
(Date:1/31/2017)... Mass. , Jan. 31, 2017  Spero ... novel therapies for the treatment of bacterial infections, ... set of antibacterial candidates from Pro Bono Bio ... increased prevalence of multi-drug resistant forms of Gram-negative ... Cantab Anti Infectives Ltd, a PBB group company. ...
(Date:1/24/2017)... YORK , Jan. 24, 2017 ... study of the laboratory use of nuclear magnetic ... 363 experienced end-users and profiled current practices, developments, ... years, as well as growth and opportunities. These ... Instrument suppliers, NMR instruments, needs and innovation requirements, ...
Breaking Biology News(10 mins):
(Date:2/28/2017)...  Xencor, Inc. (NASDAQ: XNCR), a clinical-stage biopharmaceutical company ... autoimmune diseases, asthma and allergic diseases and cancer, ... and full year ended December 31, 2016 and ... and clinical highlights. "During 2016, we ... by starting five clinical trials across our XmAb ...
(Date:2/28/2017)... ... February 28, 2017 , ... FireflySci is a small cuvette manufacturer ... late 2014, FFS had a mission to bring affordable and quality lab equipment to ... product that gives a lab everything needed to get started with using cuvettes. , ...
(Date:2/28/2017)... ... February 28, 2017 , ... ACEA Biosciences, a pioneer in cell analysis instrumentation ... Dr. Roger (Feng) Luo as the new Vice President of Global Clinical Development. ... drug companies, Dr. Luo will now team with Dr. Li Xu, Chief Medical Officer, ...
(Date:2/28/2017)... ... February 28, 2017 , ... GigaGen ... from millions-diverse immune repertoires, today announced a strategic partnership with Trianni, Inc. ... to express human antibodies. The partnership will use GigaGen technology to discover immuno-oncology ...
Breaking Biology Technology: