Scientists at Brigham and Women’s Hospital discovered that there was reduced muscle growth and impaired regeneration in zebrafish larvae that had a mutation in DDX27. They discovered this mutation and its affects using genetic mapping. The researchers found that DDX27 is associated with protein synthesis and ribosome biogenesis in the skeletal muscles. Protein production and regulation is disrupted by the loss of DDX27, which affects the function of skeletal muscle. Skeletal muscle mass is maintained by a balance between degradation and protein synthesis, a disruption of this balance leads to a loss in skeletal mass. The loss of skeletal muscle mass is a common component of many diseases; it often leads to a reduction of muscle function, which is debilitating and can lead to death. "A major hindrance in the development of effective therapies for skeletal muscle diseases thus far has been a lack of understanding of the biological processes that promote muscle growth and repair," said Vandana Gupta. "Our study is one of the first efforts to provide specificity to the processes controlling protein synthesis in muscles, which will hopefully allow for the development of effective targeted treatments for skeletal muscle diseases." The researchers plan to do further research to look at how protein synthesis is altered in different diseases and they hope to target an approach to regulate DDX27 pathways which will allow restoration of muscle growth and regeneration.
For more information on the genetics of skeletal muscle growth and regeneration, take a look at this scientific paper by Stephen M. Roth.