The astrocytic membrane protein megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) induces membrane protrusion and regulates cellular motility

摘要

Megalencephalic leukoencephalopathy with sub- cortical cysts (MLC) is a very rare form of infantile-onset leukodystrophy. The disorder is caused primarily by mutation of MLC1, which leads to vacuolation of myelin and astrocytes, sub- cortical cysts, brain edema, and macrocephaly. Recent studies have indicated that functional interactions among MLC1, GlialCAM, and CIC-2 channels play key roles in the regulation of neuronal, glial, and vascular homeostasis. However, the physiological role of MLC1 in cellular communication remains poorly understood. Thus, in the present study, we investigated the molecular function of MLC1 and its effects on cell-cell interactions.