Study of Autism-Related Disorder Reveals Key Mechanism in Brain Development, Disease

A new finding in neuroscience points to a developmental mechanism linking the disease-causing mutation in an autism-related disorder, Timothy syndrome, to observed defects in brain wiring.  These findings may be at the heart of the mechanisms underlying intellectual disability and many other brain disorders, it reports. The results of the study, led by scientist Ricardo Dolmetsch, appear online in Nature Neuroscience.

The research reveals that a mutation of the disease-causing gene throws a key process of neurodevelopment into reverse. That is, the mutation underlying Timothy syndrome causes shrinkage, rather than growth, of the wiring needed for the development of neural circuits that underlie cognition. For more information, click here to read the full release.