BUFFALO, N.Y. -- The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions and treatments.
The research is described in a paper published last week by scientists at the University at Buffalo and Stanford University in the Proceedings of the National Academy of Sciences.
The transgenic mouse developed at UB exhibits the repetitive physical behaviors, altered social behaviors and impaired communication abilities associated not just with Timothy Syndrome but with autism spectrum disorder in general.
The fact that this mouse exhibited so many behavioral parallels with humans diagnosed with autism was both surprising and encouraging, the researchers say.
"This animal and the syndrome that it is associated with, provides one of the best chances to understand the underlying mechanisms of autism," says Randall L. Rasmusson, PhD, professor of physiology and biophysics in the UB School of Medicine and Biomedical Sciences and co-author on the PNAS paper.
That's because the link between this genetic mutation and Timothy Syndrome (TS) is very strong.
"Most genetic mutations linked with autism increase the chances of having autism by a very small factor," Rasmusson explains. "In contrast, 75-80 percent of people with this Timothy Syndrome mutation have autism spectrum disorder."
The mutation alters a very well-known protein, the voltage-gated L-type calcium channel, causing it to affect how much calcium moves into cells and when.
"The fact that TS arises from such a well-defined alteration in a well-known ion channel gives us the opportunity to study the specifics of this one particular route to autism," he continues. "In understanding the specific, we hope to develop a better understanding of autism in general."<
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University at Buffalo