Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease mainly related to mutations in the MLC1 gene. Patients suffer from macrocephaly and motor and cognitive defects associated with progressive myelin degeneration. We have recently shown that MLC originates from early defects in the gliovascular unit, a specialized interface in the brain between blood vessels and astrocytic glial cells, including a defect in vessel contractility that impairs blood flow in the brain. We believe that these alterations are at the origin of MLC. Our project is now to develop an approach to restore the functions of the altered gliovascular unit in a mouse model of MLC and to test whether this strategy can reverse leukodystrophy, which would pave the way for therapeutic intervention in patients.

Project financed by ELA up to: 94 000 €