UB Physiologist Wins "Concept Award" to Study GI Mutation Related to Autism

By Lois Baker

Release Date: November 30, 2009 This content is archived.


BUFFALO, N.Y. -- A University at Buffalo physiologist is one of nine recipients from a field of 66 applicants to receive an Autism Research Program grant from the Congressionally Directed Medical Research Programs (CDMRP), under the U.S. Department of Defense.

Michael E. Duffey, PhD, professor of physiology and biophysics and medicine in the UB School of Medicine and Biomedical Sciences, has received an $118,620 Concept Award, established in fiscal year 2007 "to support exploration of an initial idea or novel observation that could result in a testable hypothesis," according to the CDMRP.

Duffey is a specialist in molecular mechanisms of the gastrointestinal (GI) tract. His grant will support an investigation of certain cellular mechanisms that may be related to gastrointestinal problems diagnosed in persons with autism.

Autism is defined by behavioral patterns and delays in language development, but research has shown that chronic GI problems, such as abdominal pain, diarrhea, constipation, esophagitis and gaseousness also may be involved.

"The central hypothesis of this proposal is that altered handling of calcium ions by GI nerve and muscle causes some of these GI disorders," said Duffey. "To study these disorders, we will use a genetically altered mouse that exhibits the rare disorder of Timothy Syndrome (TS).

"Individuals with TS have a particular genetic mutation in cell membrane calcium ion channels," he said. "Strikingly, approximately 80 percent of patients carrying this mutation also have been diagnosed with autism. No other human mutation shows this high degree of correlation."

Duffey and colleagues James Russell, PhD, Glenna Bett, MD, and Randall Rasmusson, PhD, all of the UB Department of Physiology and Biophysics, will examine intestinal smooth muscle in TS mice to determine if intracellular calcium ion overload alters the ability to propel food through the intestines. They also will determine if nerves of the intestine abnormally regulate the absorption processes, and will use molecular biological techniques to determine the mechanisms that lead to altered function of these channels.

"Study of this unique mouse will provide key insights into the cellular basis of autism and its relationship to GI disorders and will provide a model for testing new therapies," said Duffey.

The University at Buffalo is a premier research-intensive public university, a flagship institution in the State University of New York system and its largest and most comprehensive campus. UB's more than 28,000 students pursue their academic interests through more than 300 undergraduate, graduate and professional degree programs. Founded in 1846, the University at Buffalo is a member of the Association of American Universities.