Link Found Between the Fragile-X Gene and ASD Mutations

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Link Found Between the Fragile-X Gene and ASD Mutations

Postby BTDT » Thu Apr 26, 2012 8:17 am

A Striking Link Is Found Between the Fragile-X Gene and Mutations That Cause Autism

ScienceDaily (Apr. 25, 2012) — A team led by scientists at Cold Spring Harbor Laboratory (CSHL) has published research indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome.

The new study appears online ahead of print in the journal Neuron.

Fragile-X syndrome is the most common cause of inherited intellectual disability. It is also counted among the autism spectrum disorders (ASDs) owing to the co-occurrence of autism-like symptoms in patients. A usually devastating disorder, Fragile X occurs when the FMR1 gene fails to direct nerve cells to manufacture FMRP, the FMR1-encoded protein, which plays a vital role in neural development and synaptic plasticity.

"A surprising proportion -- up to 20% -- of the candidate genes we see in our sample drawn from 343 autism families appear to be regulated by FMRP," says CSHL Research Investigator Dr. Michael Ronemus, co-first author of the new study. "Because of research connecting FMRP to the phenomenon of neuroplasticity, our work indicates a possible convergence of mechanisms causing autism," adds CSHL Professor Michael Wigler, the senior author of the study. Neuroplasticity is the process by which our brains become sensitized and desensitized to repetitive inputs.

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