Translation-Independent Functions of FMRP in Excitability, Synaptic Transmission and Plasticity

With a $140,000 grant from FRAXA Research Foundation, Dr. Vitaly Klyachko and team explored STP (short-term plasticity) in Fragile X, namely looking at presynaptic calcium dynamics as a major underlying cause of the STP defects.

Results Published: Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome
$140,000 Grant
Vitaly Klyachko, PhD
Principal Investigator
Washington University
2012-2013 FRAXA Research Grant
$140,000 over 2 Years
 

While long-term plasticity (LTP) is thought to play an important role in learning and memory and has been studied extensively in FX, short-term plasticity (STP) is widely believed to control information processing, working memory, and decision making. Dr. Klyachko explored STP in FX, namely looking at presynaptic calcium dynamics as a major underlying cause of the STP defects. Because their early data indicate that the mechanism has a cell-autonomous presynaptic origin and do not depend on the activation of Gp1 mGluRs or protein translation, this suggests a major new locus of FX pathology. Dr. Klyachko tested if specific molecular targets can rescue STP and information processing defects in the neurons of FX knock-out mice.

Along with this work, the team discovered another clue to the Fragile X syndrome mystery along with researchers led by Dr. Stephen Warren at Emory University: Rare case uncovers missing clue to Fragile X 

Ziv Rotman, PhD, Postdoctoral Fellow
Pan-Yue Deng, PhD, Postdoctoral Fellow

Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

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Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Explore Current Research Grants
Help Fund the Cure