People with merosin-deficient congenital muscular dystrophy (MDCMD) have a change in the LAMA2 gene, which causes a reduction in the production of a protein called, merosin. The merosin protein plays a key role in the survival and growth of muscle cells.
Previous research has found that a small change in a different gene (MEF2A) may help protect muscles from damage caused by the loss of merosin. Therefore, changing this gene in people with MDCMD may reduce how severe their condition is.
This project aims to design a treatment which can mirror the MEF2A gene change in people with MDCMD. Professor Muntoni and team will first investigate the MEF2A gene change and what affect it has on within the body. Understanding exactly what the MEF2A gene change does will help the researchers find ways to measure if treatments are mirroring the change properly. The researchers will then design drugs and test them in models of the condition to check they correctly mirror the MEF2A gene change and are safe.
This research is the starting point for finding an effective treatment for merosin-deficient congenital muscular dystrophy. While the development is in the very early stages, this research will play a key role in providing the evidence to push towards testing in people in clinical trials.
This project is funded in collaboration with LifeArc.
