Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.

ABSTRACT:

Objective

Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile-onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either MLC1 or GLIALCAM cause the disease. MLC1 is involved in astrocytic volume regulation; GlialCAM ensures the correct membrane localization of MLC1. Their exact role in brain ion-water homeostasis is only partly defined. We characterized Glialcam-null mice for further studies.

Methods

We investigated the consequences of loss of GlialCAM in Glialcam-null mice and compared GlialCAM developmental expression in mice and men.

Results

Glialcam-null mice had early-onset megalencephaly and increased brain water content. From 3 weeks, a

SUBMITTER: Bugiani M 

PROVIDER: S-EPMC5497535 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature