"As long as autism is diagnosed by a set of behaviors, it will be an ill-defined condition," explains Rasmusson, who brings to the research a personal understanding of the condition's behavioral aspects, since his son is severely affected by autism spectrum disorder.
"Once we start to determine some definitive biomarkers, possibly, as this research suggests, calcium handling indicators, we will be able to appreciate the differences between how different individuals present with this condition," he says.
That understanding will have implications for treatments, too, because as the researchers point out, while 75 to 80 percent of patients with the mutation were diagnosed with autism, 20 percent did not.
"Once we determine how TS is related to being diagnosed with autism spectrum disorder, we have an opportunity to explore how that 20 percent of individuals manage to override the mutation's effect," says Glenna C.L. Bett, PhD, professor and vice chair of the Department of Gynecology-Obstetrics, professor of physiology and biophysics in the UB medical school and co-author on the PNAS paper. "Those mechanisms are likely to play a key role in developing interventional therapies for autism spectrum disorder."
The research also has the potential to help in modeling and understanding other psychiatric disorders, such as bipolar disorder and substance abuse and dependence.
Bett and Rasmusson were originally conducting research on calcium channels and their effects on heart function when they learned of research published in late 2004 showing that this single mutation in the L-type calcium channel could lead to Timothy Syndrome. At that point, they knew that developing a model of TS would be key to understanding the importance of this calcium channel
|Contact: Ellen Goldbaum|
University at Buffalo