A cocktail of proteins
UF Health researchers have made a new discovery about Huntington’s disease, showing that the gene that causes the fatal disorder makes an unexpected “cocktail” of mutant proteins that accumulate in the brain. The findings are significant because these newly identified mutant proteins kill neurons and build up in regions of the brain that are most affected by the disease, said Laura Ranum, Ph.D., director of the Center for NeuroGenetics and a professor in the College of Medicine department of molecular genetics and microbiology. The study was published in the journal Neuron. “We have to get to the bottom of why these junk proteins accumulate in the brain and we need to figure out how to block that process,” Ranum said. — Doug Bennett
Treatment for MS on the horizon?
A UF Health researcher has found a simple way to treat an immune-related disorder in mice, an approach that could eventually help multiple sclerosis patients after further research. The process attaches disease-related protein fragments called autoantigens to spleen cells to prevent a disease known as experimental autoimmune encephalomyelitis, or EAE, which causes brain and spinal cord inflammation in animal models. EAE is commonly used in research because it mimics some of the traits of multiple sclerosis in humans. In MS, the immune system attacks brain, spinal cord and optic nerves, interrupting nerve impulses. An infusion of spleen cells coupled with the autoantigens completely prevented EAE in a mouse model, said Chang-Qing Xia, M.D., Ph.D., a research assistant professor in the College of Medicine’s department of pathology, immunology and laboratory medicine. — Doug Bennett
Combating Duchenne muscular dystrophy
UF’s Powell Gene Therapy Center has partnered with a biotechnology company to launch a gene therapy project aimed at developing potential treatments for Duchenne muscular dystrophy, the most common form of muscular dystrophy. As part of a nearly $2 million agreement, scientists at the UF Powell Gene Therapy Center will manufacture an adeno-associated virus vector, which is a delivery mechanism that uses a harmless virus to deposit a missing protein into the cells that lack it. The lack of this protein leads to a cascade of progressive muscle loss, which typically causes boys to lose the ability to walk in their teen years and leads to premature death. Currently there are limited options for treatment of the disease, which affects about 1 in 3,500 male births worldwide. — Mindy Cameron