Fragile X = Autism?

Fragile X Syndrome is more prevalent in boys than girls (Flickr/Alex Campos)

Autism research on Fragile X syndrome has led some pharmaceutical companies to develop a pill to fight the disorder, prompting another autism treatment.

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.”

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6 Comments

  1. lisa gould
    Posted February 11, 2010 at 5:22 pm | Permalink

    This would be a dream come true,please please please find a cure or something that helps with this awful condition that my son suffers from, thank you

  2. Posted February 11, 2010 at 5:58 pm | Permalink

    70-80% of people with autism also have MR (mental retardation). I guess this makes sense with this article. How can a pill cure MR? Why doesn’t this make any sense?
    I do like hope. But a pill? I don’t know.

  3. Cristy
    Posted February 11, 2010 at 11:58 pm | Permalink

    I don’t think the rates of MR with autism are correct.
    I’ve heard many professional’s opinions on it & they think it’s that children with autism score poorly on standard tests for intelligence. Thus giving the appearance of being clinically mentally retarded when the really are not.
    I’d love to see the day when a pill for either of these would really correct the problems they have. I just don’t see it happening. But hopefully they’re making progress.

  4. Posted February 12, 2010 at 3:05 am | Permalink

    But what about those children who have Autsim but don’t have Fragile X.
    If you don’t carry the Fragile X gene, then you can’t develop it as such.

  5. Posted March 3, 2010 at 2:28 am | Permalink

    sooo fake, Georgeann Gaskey

  6. smrutilipi
    Posted July 29, 2011 at 9:03 am | Permalink

    Is mglur5 available in India. do they have any side effect.

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