Bcl-xL Inhibition as a Therapeutic Strategy for Fragile X Syndrome

FRAXA Research Foundation 2013 Grants • 2014 Grants • Disease Mechanisms • FRAXA Research Grants • Jonas, Elizabeth • Levy, Richard • Research Grant Results • Treatment Targets • Yale University September 12, 2014May 18, 2020autism

With $81,000 from FRAXA Research Foundation, Dr. Elizabeth Jonas and Dr. Richard Levy at Yale explored whether Bcl-xL inhibitors could be useful in patients with Fragile X and other autism spectrum disorders.

Publication: Inefficient Thermogenic Mitochondrial Respiration Due to Futile Proton Leak in a Mouse Model of Fragile X Syndrome

$85,000 Grant

Elizabeth Jonas, PhD

Principal Investigator

Richard Levy, PhD
Co-Principal Investigator

Yale University

2013-2014 FRAXA Research Grant

$85,000 over 2 Years

Scientists have found increases in the numbers of neurons in brain regions of autistic children, suggesting a problem in developmental programmed cell death pathways. One of the most important effectors of neuronal survival during brain development is the “anti-cell death” protein Bcl-xL. While the normal function of Bcl-xL is to maintain a healthy number of neurons and synapses, over-expressed Bcl-xL can cause an overabundance of synaptic connections. This may be happening in Fragile X.

While this project did not result directly in a new treatment strategy, it led to a very interesting study with published findings:

Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome

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