Congenital Muscular Dystrophy (CMD)

Research

Research in the congenital muscular dystrophies centers around understanding the molecular processes that lead to muscle loss in these disorders and experimenting with methods to counteract these processes.

Among the approaches being tried in laboratory rodents is gene addition (insertion of new genes, sometimes called gene therapy or gene transfer), either to directly supply the missing protein or to supply proteins that can help compensate for a missing or abnormal protein.

A variant on this theme is blocking the activity of harmful genes, which is also being tried in lab models of CMD.

An important component of MDA research in CMD is understanding early-stage muscle development in normal and abnormal situations, so that this knowledge can be applied to fixing what goes wrong with muscle development in CMD. This type of understanding could also lead to the use of stem cells as a treatment for CMD.

Another theme in CMD research is the need to fully understand the process of glycosylation of proteins, such as alpha-dystroglycan, in the muscle-fiber membrane. Glycoslyation of a protein means the addition of sugar molecules to the protein, which changes the way the protein interacts with other substances. Alpha-dystroglycan is not sufficiently glycosylated in several forms of CMD, so understanding and correcting this process is a promising avenue for treatment of these disorders. To learn more, see the illustration of the muscle-fiber membrane and cellular matrix (located in the Types of CMD section).

Several forms of CMD share three common muscle abnormalities:

• excessive apoptosis (also known as programmed cell death);
• inflammation; and
• fibrosis (scar tissue formation).

Drugs and other strategies that combat these processes are being tried in laboratory-based CMD research.

To learn more about current research in congenital muscular dystrophy, read Taking Aim at Congenital Muscular Dystrophies: Insights from pediatric neurologist Carsten Bönnemann and CMD: Aiming Simultaneously at Two Biological Targets.