Fragile X Syndrome is more prevalent in boys than girls (Flickr/Alex Campos)
Fragile X is a genetic defect that affects the behavior and emotional development of children. The mutation specifically affects brain cells as they try to develop connections through the synapses. As children try to learn and form new memories and thoughts, these immature brain cells fall short of reaching the synapse. Overactive receptors are to blame for weakening these important synapses.
Although the cause of autism is unknown, there is considerable evidence that Fragile X leads to development in autism. In addition, Fragile X also provides a reason why autism statistics for boys are so much higher than girls at 1 in 58. While girls have two X-chromosomes, boys only have one, therefore giving them a higher chance of developing Fragile X, and therefore Autism.
To strengthen synapses, pharmaceutical companies have developed an experimental drug called mGluR5. The drug will strengthen synapses by blocking the overactive receptors.
Dr. Andrea Beckel-Mitchener of the National Institute of Mental Health agrees; “this looks like a really promising pathway.”
A pharmaceutical company involved in the development of another Fragile X drug includes aFraxis, a San Diego startup under the wing of Avalon Ventures. Led by Avalon partner Jay Lichter, aFraxis operates in collaboration with the lab of Nobel laureate Susumu Tonegawa of the Massachusetts Institute of Technology (MIT). Together they are working hard to develop a pill that “might reduce or reverse the brain abnormalities and related behavioral symptoms of Fragile X.”