Aicardi-Goutières syndrome (AGS) is a rare, devastating neurological disorder that affects children. There is no known cure. A child with the severe form may have seizures, a very small head and incomplete brain development. Eighty percent of children with this form die by age 10.
The disease is linked to certain genetic mutations. It is also defined by high levels of type 1 interferon. This molecule drives brain inflammation. Until now, scientists were unsure about what caused the severe symptoms.
St. Jude scientists found that a DNA repair system breakdown is to blame.
“We are focused on understanding DNA damage in the nervous system. AGS is an example of what happens when the DNA damage response in the nervous system goes wrong,” said Peter McKinnon, PhD, director of the Center for Pediatric Neurological Disease Research. The center is part of the hospital’s Pediatric Translational Neuroscience Initiative.
“The findings will help us understand more about the genes and cell pathways that help maintain nervous system development,” he said.
Neuron published a report on this research.