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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.
"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.
The UB scientists say that this research paves the way toward understanding autism on the molecular level, a critical component that has not yet been sufficiently explored.
"Cellular calcium activity is a dynamic process that can be modulated by behavior, drugs and the environment," Bett explains. "By understanding the Timothy Syndrome mutation and the consequences of altered calcium handling, we hope to develop a general understanding of the link between calcium and the molecular basis of brain function. Understanding this link will provide new avenues for pharmacological intervention."