A team of researchers at the University of Basel, headed by Prof. Markus Rüegg, has now revealed the discovery of two new proteins through their study that have been proven effective in recovering muscle force and restoring a normal lifespan in mice with CMD.
CMD or in full Congenital muscular dystrophy, is a type of condition that involves progressive deterioration of muscles and in particular is characterized by significant impairment. As patients age, this heritable disorder becomes all the more severe and affects breathing, often leading to death before adulthood. Unfortunately, there are no effective treatments for CMD.
This study focused on mutations responsible for 30% of CMD cases- laminin α2. This protein which is a part of the extracellular matrix of muscle fibers, and responsible for anchorage muscle cells, if absent was found to be replaced by another protein. This replacement protein called the laminin α4, although can partially perform similar functions, is not sufficient to restore a healthy phenotype.
Therefore, through this observation, researchers decided to develop two novel proteins that could help anchor laminin α4 to the muscle cell and replace laminin α2.
The study, which used mice as animal models in order to test their theory found that the ones genetically modified to express
these two linkers regained healthy muscle structure and force, and that both their body weight and lifespan increased.“Both of the designed linker proteins may possibly be used in the future as a gene therapy treatment for congenital muscular dystrophy. Our study is a nice example of how the understanding of a disease on the molecular and cellular level results in new therapeutic options. We are now interested in whether these linker proteins also improve muscle function as well as affect survival in advanced stages of congenital muscular dystrophy.” explains Rüegg.
