Genetic changes that damage PTEN, a gene strongly linked to autism, cause a buildup of brain fluid by prompting neural stem cells to proliferate and block a channel that drains the ventricles, a new mouse study finds.
Loss of PTEN protein—a key regulator of cell division—also drives a surplus of inhibitory interneurons that impairs cortical function in mice. Blocking the signaling pathway underlying this proliferation decreases these brain changes in mice, the study shows.
“The findings position [cerebrospinal fluid] not merely as a passive cushioning medium but potentially as an active regulator of brain development,” says Hyun Kyoung Lee, associate professor of pediatrics and neurology at Baylor College of Medicine, who was not involved in the study.
The work adds to evidence of a link between…