Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective

European Journal of Medical Genetics
Raúl EstévezVirginia Nunes

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. Patients affected by MLC present macrocephaly, cysts and white matter vacuolation, which lead to motor and cognitive impairments. To date, there is no treatment for MLC, only supportive care. MLC is caused by mutations in the MLC1 and GLIALCAM genes. MLC1 is a membrane protein with low identity to the Kv1.1 potassium channel and GlialCAM belongs to an adhesion molecule family. Both proteins form a complex with an as-yet-unknown function that is expressed mainly in the astrocytes surrounding the blood-brain barrier and in Bergmann glia. GlialCAM also acts as an auxiliary subunit of the chloride channel ClC-2, thus regulating its localization at cell-cell junctions and modifying its functional properties by affecting the common gate of ClC-2. Recent studies in Mlc1-, GlialCAM- and Clcn2-knockout mice or Mlc1-knockout zebrafish have provided fresh insight into the pathophysiology of MLC and further details about the molecular interactions between these three proteins. Additional studies have shown that GlialCAM/MLC1 also regulates o...Continue Reading

Citations

Jan 12, 2020·Annals of Neurology·Vanessa HullDavid Pleasure
Jan 22, 2020·Human Molecular Genetics·Xabier Elorza-VidalRaúl Estévez
Dec 12, 2019·Neural Regeneration Research·Fushun WangJason H Huang
Mar 2, 2019·International Journal of Molecular Sciences·Xabier Elorza-VidalRaúl Estévez
May 7, 2020·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Angela SánchezAssumpció Bosch
Feb 9, 2021·Frontiers in Cellular Neuroscience·Assumpció Bosch, Raúl Estévez

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