With a $124,000 grant from the FRAXA Research Foundation from 2012-2014, Dr. Mara Dierssen and Dr. Rafael de la Torre conducted preclinical studies in fragile X knockout mice and a clinical trial in fragile X patients using Mega Green Tea Extract, which contains 45% by weight epigallocatechin gallate (EGCG).
Dr. Bassell’s team has developed powerful molecular genetic techniques to track mRNAs and FMRP particles as they move through these processes in brain tissue from fragile X knockout mice. They have shown that a specific intracellular signaling pathway, the PI3K/mTOR pathway, is overactive in the absence of FMRP. This pathway is involved in mediating many neuronal neurotransmitter receptors. This project will test new drugs in development which inhibit an enzyme known as PI3 kinase, a part of the pathway, and have the potential to normalize neuronal function in fragile X.