Application of mGluR Antatonists for Psychiatric Disorders Caused or Worsened by Cyfip1 Variations


The CYFIP1 gene codes for a protein that binds to the Fragile X protein (FMRP) and has been shown to be important in neuronal and synaptic function.  A deletion or variations in the CYRFIP1 gene is present in a wide variety of psychiatric orders including schizophrenia, psychosis and autism.  In addition, a deletion of the CYFIP1 in those with Prader-Will and Angelman syndromes worsens the symptoms of their mental disorder.


Professor Joseph Buxbaum and his team at the Icahn School of Medicine at Mount Sinai have developed a unique mouse model with only one copy of the CYFIP1 gene and fully characterized the synaptic physiology and behavior.  They showed that these mice exhibited an electrophysiological profile similar to the mouse models of Fragile X syndrome.  Specifically the metabotropic glutamate receptor (mGluR) dependent long-term depression (LTD) signal in these mice was significantly enhanced.  Treatment with known mGluR antagonists produced a reversal of the LTD to normal levels suggesting a path to therapy for patients with a CYFIP1 deletion or mutation


Patent Status: Patent Pending


Keyword: Method

Patent Information:
For Information, Contact:
Jeanne Farrell
Business Development Director
Mount Sinai School of Medicine
Takeshi Sakurai
Joseph Buxbaum
Orphan Diseases
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