Thursday, December 13, 2012

Fragile X Protein Linked to Autism

"Fragile X Protein Linked to Nearly 100 Genes Involved in Autism" http://www.sciencedaily.com/releases/2012/12/121212134052.htm 

I remember that a few days in class we were talking about both autism and fragile X syndrome and someone made a statement that they knew someone with fragile x syndrome that had a lot of the same symptoms as autism, but they hadn't been diagnosed with autism at this point and that made me wonder how much these two actually correlated.

Fragile X syndrome causes a person to produce too little or none of the FMRP protein, fragile X mental retardation protein. FMRP plays an important role controlling production of other proteins in the brain and other organs. Additional proteins FMRP would normally regulate are made in the wrong place and at the wrong time when a person suffers from fragile X syndrome. Two to six percent of children with autism are also diagnosed with fragile X and about one-third of fragile X patients also meet the criteria for autism.


Thomas Tuschl and Uwe Ohler discovered that FMRP directly controls at least 93 genes that have been independently linked to autism, as well as Angelman, Prader-Willi, Rett and other neurologic syndromes that have overlapping features with autism.


The next step for researchers is to examine the common molecular pathways leading to all forms of autism. By knowing these pathways scientists can better target treatments for both fragile X and autism.

1 comment:

  1. This is really interesting actually. It makes me wonder if in the future it will become more common to assess these two together as a common co-morbidity (like that of many mental disorders that are commonly assessed as comorbidities). However, I think this also raises the question, should these two be treated together? Even when mental disorders are diagnosed together there are different treatment methods and medicines for each one. Is autism ad fragile X close enough that their treatments could be the same or similar, or would they need to be treated separately?

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