http://www.digitaljournal.com/science/new-insight-into-inherited-muscle-diseases/article/378890

New insight into inherited muscle diseases

Posted Mar 30, 2014 by Tim Sandle
Scientists have reported on findings that appear to determine what goes wrong during the formation and maintenance of muscle tissue and which leads to various inherited muscle diseases.
A photomicrograph of skeletal muscle tissue revealing myotonic dystrophic changes as a result of Pol...
A photomicrograph of skeletal muscle tissue revealing myotonic dystrophic changes as a result of Polio
Dr. Karp
Skeletal muscle cells with unevenly spaced nuclei, or nuclei in the wrong location, are signs of inherited muscle diseases. Such diseases include Emery-Dreifuss muscular dystrophy, which occurs in one out of every 100,000 births, and centronuclear myopathy, which affects one out of every 50,000 infants.
To understand what is happening, research using the fruit fly Drosophila melanogaster has implicated the gene known as Sunday Driver (Syd) as a novel regulator of myogenesis. The fruit fly studies showed that Syd encodes a protein, the transport adapter Syd, which interacts with cortical factors that enable the motor protein Dynein to pull muscle nuclei into place.
The research found that the nuclei in the fly's muscle cells were unevenly spaced and clustered. It is thought that a similar effect occurs with humans and by examining for signs of this then an greater understanding of inherited muscle diseases can be made.
The study was carried out by scientists based at the Weill Cornell Graduate School of Medical Sciences and the Sloan Kettering Institute of Memorial Sloan-Kettering Cancer Center.