Rich Pedroncelli/AP
An autistic boy studies flash cards held by his instructor at his home.

FXS Research Could Pave Way for Autism Treatments

July 02, 2008 05:19 PM
by Sarah Amandolare
Fragile X Syndrome is the leading known cause of autism, but doctors have learned how to fix the gene mutation that causes this little-known disorder, which could lead to new treatments for autism.

30-Second Summary

Time magazine calls fragile X syndrome (FXS), “perhaps the most complicated genetic condition you’ve never heard of.”

The leading known cause of autism, FXS can cause mental retardation, and is often present in mothers and grandfathers of individuals who have it. FXS results from a defective gene on the X chromosome, and affects approximately 1 in 2,500 boys, leaving about half of them with autism spectrum disorders.

In 2007, studies in mice suggested that brain development could be altered and improved in people afflicted with FXS.

However, more recent research “is yielding insights that have implications for understanding and treating autism—and perhaps a number of other conditions too,” according to Time.

Research conducted at Emory University and reported on earlier this month uncovered “new information about how FXS interferes with signaling between the nucleus of neurons and the synapse.”

Randi Hagerman of the M.I.N.D. Institute at the University of California Davis said, “We know the gene, we know a lot about the biology, and we know how to fix it. That’s pretty exciting!”

In addition to autism treatments, findings could apply to Huntington’s disease, Alzheimer’s and myotonic dystrophies, according to a new congressional panel charged with researching FXS and related conditions.

Headline Links: Revealing research

Background: Past progress

Related Links: FXS research hub

Reference: The National Fragile X Foundation


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