Zebrafish help identify mutant gene in rare muscle disease

Zebrafish with very weak muscles helped scientists decode the elusive genetic mutation responsible for Native American myopathy, a rare, hereditary muscle disease that afflicts Native Americans in North Carolina.

Scientists led by John Kuwada, professor of molecular, cellular and at the University of Michigan, and Hiromi Hirata of the National Institute of Genetics in Japan originally identified the gene in mutant zebrafish that exhibited severe muscle weakness. Native American myopathy causes muscle weakness from birth and other severe problems that can lead to death before adulthood.

The findings appear in the journal Nature Communications.

The responsible gene encodes for a called Stac3, which in turn regulates a physiological process required for . The muscles of zebrafish and people with the genetic mutation don't make normal Stac3 protein and the muscles don't contract effectively.

Scientists established the importance of Stac3 for muscle function in zebrafish by studying the small fish physiologically and genetically. Scientists then looked at the human version of the gene, and found that the gene was mutated in people suffering from Native American myopathy.

For many degenerative muscle diseases few drugs help, largely because scientists don't know the genes responsible for many of these muscle diseases, making it difficult to develop drugs and other therapies that target the condition. The discovery of the gene for Native American myopathy, however, may help develop drugs to treat the , as well as other related muscle diseases.

More information: dx.doi.org/10.1038/ncomms2952

Related Stories

Uncleaned cells mean weak muscles

Apr 23, 2013

The protein complex mTORC1 promotes muscle growth. However, should this complex remain constantly active, it impairs the ability of the cells to self-clean, causing myopathy. Scientists working with Markus ...

Putting a 'HEX' on muscle regeneration

Oct 01, 2012

A complex genetic regulatory network mediates the regeneration of adult skeletal muscles. In this issue of the Journal of Clinical Investigation, researchers at the State University of New York Downstate Medical Center in Bro ...

Recommended for you

A better way to track emerging cell therapies using MRIs

Sep 19, 2014

Cellular therapeutics – using intact cells to treat and cure disease – is a hugely promising new approach in medicine but it is hindered by the inability of doctors and scientists to effectively track the movements, destination ...

User comments