Fragile X and Down Syndromes Share Signalling Pathway for Intellectual Disability

Fragile X and Down Syndromes Share Signalling Pathway for Intellectual Disability

“We have shown for the first time that some of the proteins altered in Fragile X and Down syndromes are common molecular triggers of intellectual disability in both disorders,” said Kyung-Tai Min, one of the lead authors of the study and a professor at Indiana University and the Ulsan National Institute of Science and Technology in Korea. “Specifically, two proteins interact with each other in a way that limits the formation of spines or protrusions on the surface of dendrites.” He added: “These outgrowths of the cell are essential for the formation of new contacts with other nerve cells and for the successful transmission of nerve signals. When the spines are impaired, information transfer is impeded and mental retardation takes hold.”

Tags: Fragile-X, brain, down-syndrome, neuroscience, proteins, psychology

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Comment by Logos Tartaros on August 4, 2012 at 4:11pm: Intellectual disability is a developmental brain disorder that leads to impaired cognitive performance and mental retardation. Two of the most prevalent genetic causes of intellectual disability in humans are Fragile X and Down syndromes. Fragile X syndrome arises from a single gene mutation that prevents the synthesis of a protein required for neural development (Fragile X mental retardation protein). The presence of all or a part of a third copy of chromosome 21 in cells causes Down syndrome. Although both syndromes arise due to these fundamental genetic differences, the researchers identified a shared molecular pathway in mice that leads to intellectual disability for both disorders.

Comment by Anthony on August 4, 2012 at 6:09pm: This is interesting. Hopefully with more research they can really start to help people that suffer from these, and maybe, be able to treat it and prevent it.

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Fragile X and Down Syndromes Share Signalling Pathway for Intellectual Disability

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