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Rich Pedroncelli/AP
An autistic boy studies flash cards held by his instructor at his home.
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
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.
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
Time magazine reports on a disorder called fragile X syndrome (FXS), “perhaps the most complicated genetic condition you’ve never heard of.” Resulting from an X chromosome defect, FXS is a common cause of autism and mental retardation, and tends to affect males more severely. According to Time, “an explosion of new research” into the syndrome has revealed ways to fix the defective gene, which doctors feel could lead to new treatments for autism and several other conditions.
Source: Time
On June 10, 2008, Emory University released the results of a study in which scientists uncovered “new information about how FXS interferes with signaling between the nucleus of neurons and the synapse,” which is expected to lead to “the development of new treatments for FXS.” Brain development, learning and memory require correct signaling at synapses, a quality not present in FXS patients.
Source: Emory University
Background: Past progress
In June 2007, the Interactive Autism Network published a report by Dr. Randi Hagerman, in which the doctor makes the case for the necessity of fragile X DNA testing for individuals with autism or autism spectrum disorders. Even if the full gene mutation is not present, an FXS gene permutation can cause autism and premature ovarian failure in women, said the report.
Source: Interactive Autism Network
In December 2007, a report said that scientists had managed to correct abnormalities caused by FXS by targeting one gene, suggesting that brain development could be altered and improved in people afflicted with the syndrome. Trials had been completed in mice, and human trials were set to begin shortly.
Source: Business Week
In a June 2005 interview with the Australian Broadcasting Corporation’s Radio National, Dr. Randi Hagerman of the University of California—Davis, explained how FXS affects mothers and grandfathers of affected children. Mothers with FXS often experience premature menopause, while grandfathers display neurological disorders. Hagerman advises autistic children to be tested for FXS, as the syndrome is present in 2-6 percent of autistic patients.
Source: Australian Broadcasting Corporation Radio National
Related Links: FXS research hub
The M.I.N.D. Institute (Medical Investigation of Neurodevelopmental Disorders) at the University of California Davis is a research organization with a separate fragile X research and treatment center led by Randi Hagerman. The center joins clinicians and molecular biologists in its pursuit of advancing understanding and treatment of FXS.
Source: University of California Davis
Reference: The National Fragile X Foundation
The National Fragile X Foundation explains the syndrome, outlining its characteristics and causes. Resources for parents, research updates into FXS, and information regarding the International Fragile X Conference are provided, as well as other educational materials.
Source: National Fragile X Foundation
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