Discovery of mechanism behind Alexander disease may lead to enhanced drug development

Researchers have long known that the cause behind Alexander disease is a genetic culprit—mainly a mutation leading to the production of a defective protein called GFAP. Alexander disease (AxD) is a rare neurological condition involving myelin destruction and is present during many stages of life: infancy, adolescence, or adulthood. Many of those diagnosed with condition pass away with the first years of diagnosis. Although, some can survive for several decades, babies born to the condition experience seizures and developmental delays. Now, a new research study at UNC School of Medicine examined the differences in severe and milder forms of AxD for the first time. Through their studies, they discovered that the mutant form of GFAP undergoes diverse chemical modifications depending on the time of when symptoms appear, and these modifications can be manipulated by scientists using an in-vitro system taken from AxD patient cells. The research could potential provide the basis of drug discovery and development.