Anna Francesconi, PhD
Principal Investigator
Albert Einstein College of Medicine

FRAXA Awards:
  $43,500 in 2007
  $40,000 in 2005

by Michael Tranfaglia MD, FRAXA, 4/2007

Abnormalities of metabotropic glutamate pathways in the fragile X brain have been demonstrated in many ways by many research groups, and these appear to be the cause of many or most of the symptoms of fragile X. However, this research group is the only one to date to study the important question of how mGluRs move around in fragile X neurons, compared to normal. As in so many biological processes, metabotropic glutamate receptor function is not fixed and static; rather, these receptors move around in the cell membrane, from one part of the synapse to another, and they move in and out of the cell surface membrane. All of these movements are controlled and tightly regulated, and there is reason to suspect that the absence of FMRP affects these processes.

Understanding the mechanisms underlying these movements will help us to understand the central abnormalities in fragile X, and it may lead to new targets for drug discovery. Perhaps even more importantly, understanding these mechanisms will help us improve fragile X treatments using mGluR antagonists.