A Promising Clue to the Mystery of Autoimmune Diseases

“If we learn something from this, it could be helpful to people with other autoimmune diseases, such as MS and rheumatoid arthritis.” Scott Zamvil, MD, PhD (Pictured, right)

An organism found throughout the gut of patients battling a rare neurological disorder may provide a clue to autoimmune diseases say two UCSF scientists working to discover why the body attacks itself. 

If a connection is found, it will be a first for autoimmune diseases, which affect 23.5 million Americans, according to the National Institutes of Health. 

Bruce Cree, MD, PhD, a neurologist and clinical research director of the UCSF Multiple Sclerosis (MS) Center, and Scott Zamvil, MD, PhD, an immunologist, neurologist, and MS researcher, are exploring a link between this organism, known as clostridium perfringens, and neuromyelitis optica (NMO), an aggressive disease that attacks the central nervous system and optic nerves. 

The UCSF Weill Trailblazer Award could not have come at a better time in their research and both scientists emphasized how grateful they are to the Weills for the opportunity to explore this promising discovery. “We are fortunate to have received the Weill Trailblazer Award now to help promote this research further,” notes Dr. Zamvil. 
While NMO is rare, it is debilitating. Sufferers lose their sight, control of their bowels, their limbs, and eventually their ability to breathe. Once believed to be a form of MS, scientists now know it is a separate disease afflicting about 4,000 people in this country. 

In their work to test microbiomes of patients with NMO, Drs. Zamvil and Cree found significantly higher quantities of the organism in stool samples of those patients compared to healthy individuals. If they can show that clostridium perfringens is capable of causing an abnormal immune response, it may prove a link between an imbalance of the gut’s microbiota, known as dysbiosis, and the development of an autoimmune disorder. 

“This has very broad implications,” says Dr. Cree. “It would be the first time that we would have identified a cause of autoimmune disease, any autoimmune disease. If we can understand the process, then we can potentially develop interventions that could be preventive or even curative.”

The UCSF Weill Award will fund a fecal transplant experiment that will transfer stool samples from patients to germ-free mice to see if the mice develop an NMO-like disease. While the experiment sounds logical, it is considered high-risk. 

“It makes sense to you and me, but if you tell grant reviewers that we think there's a link between bacteria in the gut and NMO, a central nervous system disease, there is actually quite a bit of skepticism,” says Dr. Cree.

Both scientists credit recent breakthroughs in microbiome research for enabling their finding. “The microbiome research that's going on right now in inflammatory diseases is taking off. It's gone to light speed at this point,” says Dr. Zamvil. “If we learn something from this, it could be helpful to people with other autoimmune diseases, such as MS and rheumatoid arthritis.” 

As Dr. Cree notes: “That's the whole purpose of medicine and science, to try and understand the human condition and the things that cause illness as well as the things that promote health. That is what makes UCSF a special place and what makes our Division of Neuroimmunology unique. It is really the spirit of the UCSF Weill Institute for Neurosciences.”

UCSF Weill Awards

Joseph DeRisi, PhD; Samuel Pleasure, MD, PhD; and Michael Wilson, MD