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 disease you need to be able to target the defective elements,” said Justin Fallon, professor of neuroscience at Brown. “The Fragile X granule offers such a target.”
Fallon is senior author of the paper titled “The FXG: A presynaptic Fragile X granule expressed in a subset of developing brain circuits.” Two postdoctoral students at Brown served as lead authors: Sean Christie and Michael Atkins. James Schwob, a researcher from Tufts University Medical School, also participated.
Autism affects as many as 1.5 million Americans, and the number is increasing, according to the Autism Society of America. It is estimated that 1 in 150 births involve children with some form of autism.
Autism can be caused by a variety of genetic factors, but Fallon’s lab focused on one particular area — the Fragile X protein. If that protein is mutated, it leads to Fragile X syndrome, which causes mental retardation and is often accompanied by autism.
There is growing recognition in the field that autism and mental retardation are diseases of the synapse, the basic unit of information exchange and storage in the brain. Many groups have extensively studied the role of the Fragile X protein in the post-synaptic, or receiving side of synaptic connections. This was a starting point for the research conducted by Fallon’s team in their study of the Fragile X protein and synaptic connections in healthy mice.
By examining specially prepared sections of mouse brain tissue with high-powered light and electron microscopes, Fallon’s team made a number of determinations. First, they showed that Fragile X exists at the pre-synaptic, or sending side of the synapse. This is an area that had not been widely studied.
“For over 25 years the field has focused almost exclusively on the post-synaptic, receiving side,” Fallon said. “Almost no one has looked at the pre-synaptic side, as it was not thought to be involved in Fragile X.”
This discovery is important because scientists, if they are to treat Fragile X syndrome, autism or mental retardation must know where the functional defect actually is. Fallon’s research helps fill in a potential gap.
“The implication is that pre-synaptic defects could contribute to the pathology in autism in Fragile X,” Fallon said.
Even more significantly, Fallon and his lab learned that Fragile X protein is only present in a small fraction of what are known as pre-synaptic specializations. The pre-synaptic Fragile X protein also turned out to be present in microscopic granules, which look like tiny pebbles under a high-powered microscope. Understanding the Fragile X granule is important in this context because the finding could lead to more targeted treatments.
Further research is needed, but Fallon’s lab hypothesizes that the granules contain multiple RNAs, or sets of genetic information to help modify the synapse during learning and memory. If their theory is proven correct, the granules might serve as pinpoint targets for eventual drug treatments of autism.
The scientists’ efforts date to 2005; their finding of the Fragile X granules was “serendipity,” Fallon said. The original focus was on developing an improved method for visualizing where Fragile X protein sits in the brain. That new visualization method led to the discovery of the granules.
The work was supported by the National Institutes of Health and FRAXA, the Fragile X Research Foundation.
Mark Hollmer | EurekAlert!
Further reports about: > Autism > Autism Treatment > Cancer treatment > Fragile X granule > Fragile X protein > Mental > Neuroscience > developing brain circuits > electron microscope > fragile X syndrome > mental retardation > mental retardation treatments > pre-synaptic > retardation > synaptic connection
20.11.2017 | Washington University in St. Louis
Carefully crafted light pulses control neuron activity
20.11.2017 | University of Illinois at Urbana-Champaign
The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.
Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...
Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.
That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...
Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.
During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....
The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.
Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...
Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...
15.11.2017 | Event News
15.11.2017 | Event News
30.10.2017 | Event News
20.11.2017 | Earth Sciences
20.11.2017 | Earth Sciences
20.11.2017 | Life Sciences