Affiliation: College of Arts and Sciences, Department of Biology
Astrocytes are a major non-neuronal glial cell type that perform many critical functions in the brain. Astrocytes require the protein hepaCAM to organize their branches in a functional manner and make appropriate connections to other cells in the brain. Mutations in hepaCAM cause Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a developmental and progressive brain disorder characterized by early onset macrocephaly, seizures, motor dysfunction, and cognitive decline. Little information is known about how these mutations may cause astrocyte dysfunction in MLC. Here I examined how different MLC-causing mutations affect hepaCAM protein localization. To do so, I chose three known MLC mutations that occur in hepaCAM and transfected mutant hepaCAM into cultured astrocytes. The mutants, when compared with wildtype hepaCAM, showed a change in hepaCAM localization. Rather than gathering in puncta along the cell branches, the mutant hepaCAM did not show any discernible puncta. Instead, the mutant hepaCAM protein was evenly distributed around the entire cell. Future research will investigate how hepaCAM mutations can change the morphology of astrocytes and how they appear in mouse brains.