Both researchers agree to say that this case demonstrates that the investigation of a rare disease that affects a small proportion of the population can serve as a model to identify mechanisms to think of new treatments for common diseases.
Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy that appears during the first year of life, characterized by macrocephaly (oversized head). A few years later, it appears a slow neurological deterioration with ataxia (lack of motor coordination) and spasms. Magnetic resonance techniques revealed inflammation of the cerebral white matter and subcortical cysts, particularly in the anterior temporal regions.
In the 75% of MLC patients it has been identified mutations in the gene MLC1, which cause the disease. Virginia Nunes and Raul Estevez have recently identified a second gene causing MLC, named GlialCAM.
In the present study they have been identified precisely a GlialCAM protein as an ion channel subunit chloride that allows its entering and exiting the brain so that the cells can regulate the homeostatic balance.
|Contact: Arantxa Mena|
IDIBELL-Bellvitge Biomedical Research Institute