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

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.

Results: Yale researchers find a cause and possible treatment for Fragile X
$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.

In the process of this study, Dr. Jonas discovered a more fundamental abnormality: the cells’ mitochondria — which produce energy — have a leaky inner membrane. When a leak in the cell’s mitochondria short-circuits efficient functioning of the synapse, memory, learning and typical brain development are all compromised, Jonas said.

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

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