In MDC1A, mutations in the LAMA2 gene cause the abnormal production of the protein Laminin 𝛼2. This protein fulfills important functions within the muscle. It particularly maintains structural interaction between the muscle cells and the surrounding tissue, essentially holding the muscle in place. when the protein’s function is impaired, it causes patients to suffer from low muscle tone and muscle weakness at birth. Furthermore, some children develop feeding and breathing problems, as well as a delay in motor skill development.
A cure is not yet available and the current treatment only alleviates the symptoms. For that reason, researchers are currently looking into new forms of treatment.
One idea is to withdraw stem cells from patients themselves, exchange the mutated gene with a healthy version and re-inject the cells into the patients. The altered cells will generate new, healthy muscle, counteracting the muscle weakness for an extended period of time.
Another approach may be to target the affected cells directly by using a virus. This virus shuts down the production of defective proteins and activates a replacement protein, which takes over the role of Laminin 𝛼2.
Drug treatments that buffer the muscle loss caused by genetic mutations are also an option that is currently being explored and could be combined with other therapies.
While these options are promising, more research and communication between experts is needed to improve their efficacy and implement them into the standard treatment plan for MDC1A.