Researchers find new gene mutation associated with congenital myopathy

July 25, 2012

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 for disease in these individuals where no 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 and, in particular, part of an important called the triad.

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

More information: Journal reference: AJHG-D-12-00101R4

Related Stories

Recommended for you

Association found between abnormal cerebral connectivity and variability in the PPARG gene in developing preterm infants

December 12, 2017
(Medical Xpress)—A team of researchers with King's College London and the National Institute for Health Research Biomedical Research Centre, both in the U.K., has found what they describe as a strong association between ...

Large genetic study links tendency to undervalue future rewards with ADHD, obesity

December 11, 2017
Researchers at University of California San Diego School of Medicine have found a genetic signature for delay discounting—the tendency to undervalue future rewards—that overlaps with attention-deficit/hyperactivity disorder ...

Gene variants identified that may influence sexual orientation in men and boys

December 8, 2017
(Medical Xpress)—A large team of researchers from several institutions in the U.S. and one each from Australia and the U.K. has found two gene variants that appear to be more prevalent in gay men than straight men, adding ...

Disease caused by reduction of most abundant cellular protein identified

December 8, 2017
An international team of scientists and doctors has identified a new disease that results in low levels of a common protein found inside our cells.

Study finds genetic mutation causes 'vicious cycle' in most common form of amyotrophic lateral sclerosis

December 8, 2017
University of Michigan-led research brings scientists one step closer to understanding the development of neurodegenerative disorders such as ALS.

Mutations in neurons accumulate as we age: The process may explain normal cognitive decline and neurodegeneration

December 7, 2017
Scientists have wondered whether somatic (non-inherited) mutations play a role in aging and brain degeneration, but until recently there was no good technology to test this idea. A study published online today in Science, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.