Background:
The absence of a protein called merosin causes severe symptoms in people with merosin-deficient congenital muscular dystrophy (LAMA2-RD), who are often unable to walk. The researchers have identified a family where two siblings carry the same LAMA2-RD-causing gene change. One sibling, despite the loss of merosin, shows significantly milder symptoms. Further research has shown that the sibling with milder symptoms has higher activity of two particular genes, which was not observed in the sibling with stronger symptoms.
What are the aims of the project?
Severe consequences of merosin loss may be preventable by increasing the amounts of two particular genes. By using LAMA2-RD mouse models, the researchers aim to modify the activity of these genes and observe the muscle and nerve function.
Why is this research important?
Increased amounts of the two genes should show improved symptoms and may lead to changes in muscles and nerves in treated mice. If this approach results in the reduction of condition severity, it could represent a basis for the development of therapies for LAMA2-RD in the future, which may improve the quality of life for those living with the condition.