Researchers Increase Knowledge about Megalencephalic Leukoencephalopathy

Leukodystrophy is a group of diseases which is caused by the deterioration of the white matter of the brain. It specifically targets the growth and maintenance of the myelin sheath which wraps the axons of the central neurons and is responsible for the neural conduction of the nervous system.

Megalencephalic Leukoencephalopathy (MLC) is a form of leukodystrophy which manifests as gross motor developmental delay and seizures, with occasional extrapyramidal symptoms. It also presents with ataxia and mental retardation. MLC is thought to be caused by mutations in the MLC1 and GlialCAM genes. There is currently no known treatment for this disorder.

A recent study in the field of biomedical science research published in the journal Nature Communications, used animal models to demonstrate the development of MLC. It was able to establish the possible cause of myelin vacuolization found in the said neural disorder. The researchers have found that chloride channel dysfunction CLC-2 might be respIonsible for the abnormality in the myelin sheath.

This biomedical science research was carried out by researchers Raúl Estévez, lecturer of the Department of Physiological Sciences II at the University of Barcelona (UB), and member of the Centre for Biomedical Network Research on Rare Diseases (CIBERER); Thomas J. Jentsch, from the Leibniz-Institute for Molecular Pharmacology (FMP-MDC, Berlin), and Virginia Nunes, lecturer of Genetics at UB, researcher at the Bellvitge Biomedical Research Institute (IDIBELL) and member of CIBERER.

The study conducted on mice showed the proteins MCL1 and GlialCAM are essential participants in the localization and maintenance and regulation of chloride channel CLC-2 in the glia. This finding gives substantial evidence regarding the association of the chloride channel with the disease.

In a previous study, the correlation of the protein MLC with the chloride channel CLC-2 was already described. Raúl Estévez, together with the scientific teams of CIBERER and FMP-MDC (Neuron, 2012) authored the research. This is one of the new biomedical science innovations which provides additional knowledge in the medical field. The findings of this study made in animal models pave the way for new therapeutic strategies which can be beneficial to patients with MLC and may inspire duture biomedical science innovations.

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