New Fragile X Gene Found
A new gene linked to Fragile X has been found by researchers at the Scripps Research Institute. More than sixteen years ago, scientists linked Fragile X to another gene FMR1: When FMR1 gene expression is inactivated, there is a lack of a protein known as the fragile X mental retardation protein, which is involved in the functioning of neurons. FMR4 is located in the “same chromosomal neighborhood as FMR1″ and is silenced in individuals with Fragile X, and also ” up-regulated in FXTAS (fragile X-associated tremor/ataxia syndrome), a disease that resembles Parkinson’s disease.” From today’s Science Daily:
……[Professor Claes] Wahlestedt knew the FMR1 gene locus-a specific point on a chromosome-was not well mapped. Wahlestedt and his colleagues hypothesized that unknown regulatory genes might be transcribed from the region.
The new study shows at least one other functional gene-FMR4-from this genetic region is linked to fragile X syndrome, although the gene’s exact role in the intact brain remains uncharacterized.
“FMR4 is the new neighbor on the block and should not be ignored,” Wahlestedt said. “While there is no direct relationship between these two genes [FMR1 and FMR4] that we know of, our study shows that FMR4 is not a conventional gene-it’s a non-coding RNA transcript. It’s not a dead piece of the genome, it has a pronounced functional effect in human cultured cells..”
About one-third of those with Fragile X also have autism.
The study (full text), A Novel RNA Transcript with Antiapoptotic Function Is Silenced in Fragile X Syndrome is available online at PLosOne.
Tags: asd, asperger, autism, autism spectrum disorder, children, Family, Fragile X, genes, Genetics, pdd-nos, Psychology, rna
4 opinions for New Fragile X Gene Found
Marla
Feb 4, 2008 at 12:45 am
M just had a blood draw for Fragile X and Rhetts. I wonder if the changes for the blood tests have been made? With all these discoveries we may be going back to the Cleveland Clinic again.
Kristina Chew, PhD
Feb 4, 2008 at 1:32 pm
And more research with a view to the development of treatments is being developed—-Seaside Therapeutics has awarded a $4.5 million contract to Vanderbilt University to discover compounds for treating Fragile X.
FXSmom
Apr 4, 2008 at 2:51 pm
I blogged about this last year. I’m amazed it is not getting more press but probably because it is still in its infancy.
Missing Protein in Fragile X Affects Neuron Signaling
Jun 14, 2008 at 5:22 pm
[…] X around the time that he was being evaluated for autism, and Charlie does not have Fragile X (go here to read about a new gene that was found for Fragile X earlier this year). A recent study in […]
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