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9.B.129. The Membrane Protein MLC1 (MLC1) Family

Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1). MLC1 is a syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes.  MLC1 interacts structurally and functionally with several ion/water channels and transporters and ion channel accessory proteins (Brignone et al. 2015).  MLC1 mutations cause MLC1and brain channelopathies.

References associated with 9.B.129 family:

Boor, P.K., K. de Groot, Q. Waisfisz, W. Kamphorst, C.B. Oudejans, J.M. Powers, J.C. Pronk, G.C. Scheper, and M.S. van der Knaap. (2005). MLC1: a novel protein in distal astroglial processes. J Neuropathol Exp Neurol 64: 412-419. 15892299
Brignone, M.S., A. Lanciotti, S. Camerini, C. De Nuccio, T.C. Petrucci, S. Visentin, and E. Ambrosini. (2015). MLC1 protein: a likely link between leukodystrophies and brain channelopathies. Front Cell Neurosci 9: 66. 25883547
Dubey, M., E. Brouwers, E.M.C. Hamilton, O. Stiedl, M. Bugiani, H. Koch, M.H.P. Kole, U. Boschert, R.C. Wykes, H.D. Mansvelder, M.S. van der Knaap, and R. Min. (2018). Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. Ann Neurol 83: 636-649. 29466841
Pérez-Rius, C., M. Folgueira, X. Elorza-Vidal, A. Alia, M.B. Hoegg-Beiler, M.N.H. Eeza, M.L. Díaz, V. Nunes, A. Barrallo-Gimeno, and R. Estévez. (2019). Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit. Orphanet J Rare Dis 14: 268. 31752924
Sirisi, S., X. Elorza-Vidal, T. Arnedo, M. Armand-Ugón, G. Callejo, X. Capdevila-Nortes, T. López-Hernández, U. Schulte, A. Barrallo-Gimeno, V. Nunes, X. Gasull, and R. Estévez. (2017). Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy. Hum Mol Genet 26: 2436-2450. 28398517