Friday, November 21, 2014

The Missing Link Between Fragile X Syndrome and Autism Spectrum Disorders

For a while, scientists have known that humans born with Fragile X Syndrome (FXS) have a high chance of being placed on the autism spectrum, but it was not known why this occurred. We knew that fragile X syndrome is characterized by an error in the production of the FMRP protein. We also knew that autism spectrum disorder (ASD) involves changes in normal brain development to effect social skills, empathy, learning ability, and speech. Therefore it was long theorized that the FRMP protein could be a factor in neurodevelopmental disorders, such as ASD.



Scientists have now obtained study results to support the idea that the FMRP protein does have an effect on embryonic development in the cortex of the brain. More specifically, FMRP is responsible for creating N-Cadherin. N-Cadherin helps neurons to reach their final positions in the cortex, and allow for the brain to be properly connected. Since this brain connectivity is lacking in someone with ASD, this may be a link to show the reasons why Fragile X Syndrome is highly associated with Autism Spectrum Disorder.



This study did not just give the reasoning for the link between FXS and ASD. The study also involved introducing the proper FMRP protein in mice embryos before birth to find out if it was possible to change the brain's wiring properly to potentially reduce or stop ASD from developing. It was shown that introducing the proper protein did have positive effects on the proper wiring of the cortex.

Those diagnosed with Fragile X Syndrome are highly affected by their disorder. With this, about 1/3 of those affected are also diagnosed with ASD. 15% are also affected by severe epilepsy. All three of these disorders are due to errors in development of the cortex. With this research, it could help treat or prevent Fragile X disorder in those with a genetic pre-disposition for it. Being able to help treat a disease with genetic factors is an important thing. It will allow for genetic reproduction without worry as to whether or not the offspring will inherit it.

Article: http://www.medicalnewstoday.com/releases/285578.php

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