Novel cellular mechanism sheds light on causes of childhood developmental disorder

New findings from a Brown research team about Christianson syndrome could eventually be used to inform therapeutic interventions for that disorder as well as for neurodegenerative conditions like Alzheimer’s disease.

PROVIDENCE, R.I. [Brown University] – A new study provides insights into the cellular mechanisms involved in Christianson syndrome, an X-linked genetic disorder characterized by delayed development, cognitive disability and epileptic seizures as well as difficulties with speech, balance and mobility.

This research, published online in the Journal of Neuroscience on Wednesday, Sept. 15, demonstrates how a cellular process known as endosome trafficking, when defective, may lead to neurodegeneration, said study author Dr. Eric Morrow, a physician-scientist and director of Brown University’s Center for Translational Neuroscience. There is evidence of defective endosomal trafficking in a number of neurodegenerative disorders, including Alzheimer’s disease, he said.

The more scientists understand the biology of Christianson syndrome and other disorders, the more power they have to develop new treatments, Morrow said.

“The discovery of this novel cellular mechanism in Christianson syndrome is an important turn in the path towards progress,” he said. “It shifts the focus to include what’s happening with other disorders that we now know may be related, like the lysosomal disorders of childhood as well as Alzheimer’s disease, and to consider what lessons from more common neurological disorders might be adapted to developing treatments for CS – and vice versa.”

/Public Release. This material comes from the originating organization/author(s)and may be of a point-in-time nature, edited for clarity, style and length. The views and opinions expressed are those of the author(s).View in full here.