Latest FMR1 Stories

A novel protein structure involved in hereditary neurodegenerationFragile X tremor/ataxia syndrome (FXTAS) is a recently recognized condition, which is actually one of the most prevalent heritable neurodegenerative diseases. It is assumed that the condition is caused by deficiency for the protein Pur-alpha, which is essential for normal neural function. Structural studies undertaken by a team under the leadership of Dr. Dierk Niessing of the Helmholtz Zentrum München and the Gene Center at...

U.S. scientists say they used a fruit fly's eyes to see proteins necessary for memory in a study that provides new data on fragile X mental retardation. Understanding translational control mechanisms in the brain teaches us how the brain learns and adapts, and will inform the design of treatments for specific types of neurologic disease, said Dr. Anne-Marie Cziko of the University of Arizona, co-author of the study. The researchers said they discovered the fragile X mental retardation...

WALNUT CREEK, Calif., July 22 /PRNewswire/ -- Fragile X Syndrome (FXS) research is moving closer to finding a cure with the recent approval by The National Institutes of Health (NIH) of a comprehensive plan created by a group of leading scientists, parents and advocates. The Congressional Fragile X Caucus is convening a Congressional briefing to highlight the work of the NIH's Research Plan on Fragile X Syndrome and Associated Disorders and to celebrate National Fragile X Awareness Day in...

Researchers from the University of California, Davis have developed a specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome. The related report by Iwahashi et al, "A quantitative ELISA assay for the fragile X mental retardation 1 protein," appears in the July 2009 issue of the Journal of Molecular Diagnostics.Fragile X syndrome is the most common form of inherited intellectual...

U.S. neuroscientists say they have determined a signaling protein linked to mental retardation also controls synapse maturation and plasticity. Researchers at the Cold Spring Harbor Laboratory demonstrated the mechanism by which the protein oligophrenin-1 controls the maturation and strength of excitatory synapses, the tiny gaps across which the majority of neurons communicate. The scientists said their discovery is important, in part because deficits of that signaling protein have been...

A structure in the brain -- Fragile X granule -- may offer a potential target for treating some autism and mental retardation, U.S. researchers said. A Brown University research team said the finding opens a new line of research about potential treatments for autism, a neurological disorder that strikes young children and can impair development of social interaction and communication. If you are going to treat the disease you need to be able to target the defective elements, senior author...

A Brown University research team has discovered something in the brain that could serve as a target for future autism and mental retardation treatments.Discovery of the novel Fragile X granule is detailed in the Feb. 4, 2009, issue of the Journal of Neuroscience. This finding opens a new line of research about potential treatments for autism, a neurological disorder that strikes young children and can impair development of social interaction and communication."If you are going to treat the...

Initial findings by researchers at Rush University Medical Center and the University of California, Davis, could lead to a new approach for treating inherited disorderA pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS). Findings of the open label, single-dose study by researchers at Rush University Medical Center and the University of California, Davis, Medical...

Dr. Francois Bolduc keeps more than 300,000 fruit flies in a basement laboratory, where he manipulates their genes and then tests their mental abilities. He's called the "fly guy," and he may sound like a comic book villain, but Bolduc is no mad scientist.A new recruit to the University of Alberta's Faculty of Medicine & Dentistry, Bolduc has shown that genetically disrupting a specific gene called FMR1 in a fruit fly's brain will wipe out its long-term memory. Bolduc has also...

Scientists using a new drug screening method in Drosophila (fruit flies), have identified several drugs and small molecules that reverse the features of fragile X syndrome -- a frequent form of mental retardation and one of the leading known causes of autism. The discovery sets the stage for developing new treatments for fragile X syndrome. The results of the research by lead scientist Stephen Warren, PhD, chair of the Department of Human Genetics at Emory University School of Medicine, are...