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All Genes Are Not Created Equal
Date:8/21/2013

WALNUT CREEK, Calif., Aug. 21, 2013 /PRNewswire/ -- The little known FMR1 gene was first mapped in 1991. It was originally thought to cause only fragile X syndrome (FXS) when the gene mutates, but scientists have since discovered that the same mutation that causes the developmental and intellectual disabilities associated with FXS can also cause impaired female fertility (fragile X-associated premature ovarian insufficiency or FXPOI) and a progressively debilitating neurodegenerative disorder that resembles a daunting combination of Alzheimer's and Parkinson's diseases known as fragile X-associated tremor/ataxia syndrome (FXTAS). Together these three are now referred to as Fragile X-Associated Disorders (FXDs).

That's a lot for a single gene to be responsible for, but the FMR1 gene's long-suspected connection to autism has become much clearer within the last 18 months. Recent research has confirmed that there are likely hundreds of genes that can mutate spontaneously or in combination with environmental factors to cause autism. What many refer to as an autism "epidemic" has been slow to give up its secrets, but the identification of hundreds of autism-causing gene candidates is truly a giant step along the road to battling the condition.

What's more, it now appears that the little FMR1 gene also plays what may turn out to be a significant role in autism. As many as half of the suspect autism genes are now known to be regulated (controlled) by the FMR1 gene. This should really come as no surprise since various studies have found that up to 60 percent or more of individuals living with FXS also exhibit enough symptoms of autism to place them squarely on the autism spectrum. Many in the field are convinced that the molecular connection between the Fragile X gene and its protein and autism is among the best and most solid leads to figure out what causes autism.

Yet another recent study documents (for the first time) a su
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SOURCE National Fragile X Foundation
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