Healthy brains require a balance of two energy sources – ATP and GTP – regulated by the gene AMPD2. A mutation in the gene can result in pontocerebellar hyplasia, a neurodegenerative disease afflicting children. Illustration courtesy of Evgeny Onutchin, Buryat Studio
Potential Nutritional Therapy for Childhood Neurodegenerative Disease
Researchers at the University of California, San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition.
The study, from a team of international collaborators led by Joseph G. Gleeson, MD – Howard Hughes Medical Institute investigator and professor in the UCSD Departments of Neurosciences and Pediatrics and at Rady Children’s Hospital-San Diego, a research affiliate of UC San Diego – will be published in the August 1 issue of the journal Cell.
Pontocerebellar hypoplasia is a group of rare, related genetic neurological disorders characterized by abnormal development of the brain, resulting in disabilities in movement and cognitive function. Most patients do not survive to adulthood.
Gleeson and colleagues identified a specific gene mutation that causes pontocerebellar hypoplasia and linked it to an inability of brain cells to generate a form of energy required to synthesize proteins. Without this ability, neurons die, but the researchers also found that bypassing this block with a nutritional supplement restored neuronal survival.
“The goal is to one day use this supplement to prevent or reverse the course of neurodegeneration in humans, and thus cure this disease,” said Gleeson.