Scientists Uncover Leads to New Treatments for Neuromuscular Diseases

Children's Hospital Boston has announced the results of a study that could have a major impact on patients with major degenerative muscular disorders that could lead to new and more effective treatments.

The research team, lead by Iris Eisenberg, PhD, of the Program in Genomics at Children's Hospital Boston. Louis Kunkel, PhD, director of the Program in Genomics and an investigator with the Howard Hughes Medical Institute has discovered the first microRNAsm which are the tiny bits of code that are in charge of regulating gene activity, that are linked with 10 of the major degenerative muscular disorders.

Not only will it lead to new treatments, but a greater understanding of some of the most debilitating disorders such as all forms of muscular dystrophy - Duchenne muscular dystrophy, Becker muscular dystrophy, limb girdle muscular dystrophies, Miyoshi myopathy, and fascioscapulohumeral muscular dystrophy - the congenital myopathies - nemaline myopathy - and the inflammatory myopathies -polymyositis, dermatomyositis, and inclusion body myositis.

It is known that they are linked with genes and research is continuing to reveal more genes connected to them, but they still do not know how thee genes are able to cause muscle weakness and the wasting away of the muscles and they have not been able to use the discoveries to develop new treatments.

It is known that most of the types of muscular dystrophy begin with a known mutation that occurs in a master gene. This mutation lead to damaged or absent proteins in the muscle cells. With Duchenne and Becker muscular dystrophies, it is a protein called dystrophin. When this one protein is missing, the muscle tissues weaken and eventually rupture. The tissues becomes more and more nonfunctional from inflammatory attacks as well as other attacks that are still not fully understood.