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All Genes Are Not Created Equal
Date:8/21/2013

bset of individuals with autism who, while they do not have a mutation in their FMR1 gene, do have an abnormally low level of FMRP (the protein made by the FMR1 gene).

These significant findings have not been lost on the major drug companies. At least three such companies are in various stages of human clinical trials of experimental drugs to reverse core symptoms that are shared between FXS and autism. A drug that could be approved for a population as large as those diagnosed with autism has gotten a lot of people's attention, and those in Fragile X research are thrilled to have discovered what some are already calling the key to unlocking autism. While a simplification of a complex process, their thinking is clear: the symptoms of FXS and autism may be caused by the same mechanism in the brain, and a drug capable of reversing that could effectively treat (or dare we say, reverse) both conditions. 

As if that weren't enough importance for what's now looking like an "uber" gene for brain development and function, an international team of researchers from the Wellcome Trust Sanger Institute, the Broad Institute of MIT and Harvard, and the Institute for Molecular Medicine Finland have added schizophrenia to the growing list of conditions in which the FMR1 gene might play a role. In studies published just this week, the authors document a mutation in a protein believed to play a role in causing schizophrenia and, like autism researchers before them, have linked this protein to the Fragile X gene and its FMR1 protein.

According to the study's co-author, Dr. Nelson Freimer, a professor of psychiatry at UCLA, the experiments showed that the suspected schizophrenia-causing protein interacts with FMRP. That's the same FMRP, the loss of which causes fragile X syndrome, is the leading cause of inherited forms of autism, and is the most common cause of developmental disability among boys.

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SOURCE National Fragile X Foundation
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