Children with Rare, Debilitating Brain Diseases Suffer from Mutations in a Little-Known Protein Complex
A UC Davis Researcher has Unveiled the Complex’s Structure – Opening the Door to Future Treatments
Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny child suffers seizures and breathing problems.
Jawdat Al-Bassam, an associate professor of molecular and cellular biology at the University of California, Davis, often hears from these families. “I’ve gotten emails from folks all over the world,” he said.
By the time they contact him, they’ve undergone a bewildering medical journey lasting months or years – and received devastating news: Their child has a rare genetic disorder called a “chaperone tubulinopathy.”
“The parents are asking if there’s a way to do gene therapy,” Al-Bassam said. These life-shortening diseases, with names like infantile encephalopathy, corpus callosum hypoplasia and Kenny-Caffey syndrome, currently have no treatments. But Al-Bassam and his team have made a major discovery that could lead to future treatments.
In two scientific papers — one published May 8, and the other in December last year — they have mapped the structure and mechanics of a critical cellular machine that malfunctions in people with these diseases.