Converging Molecular Pathways In Autism Spectrum Disorders.
University of California, San Francisco
Fragile X and Tuber Sclerosis are two known single gene heritable developmental disorders that can cause autism or autism-like presentation in affected individuals. One way to better understand the disease mechanism, specifically, the biological pathway that a single mutation can lead to the observed autistic phenotype could spur further gene discovery, and more important, identify additional molecular targets suitable for drug intervention. Dr. Kriegstein and his postdoctoral fellow, Dr. Ashkan Javaherian, propose to analyze in detail the molecular pathways of both the Fragile X Mental Retardation gene (FMR) and the Tuberous Sclerosis Complex to (TSC) explore possible common proteins and converging or shared functions that may be relevant to autism. What this means for people with autism: This innovative study offers a new approach to examine molecular pathways in brain development that could lead to autism. The identification of a single molecular pathway common to both disorders could pinpoint lead to an attractive candidate pathway for the development of targeted intervention.