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Spectrum: Autism Research News

Tag: FMR1

October 2010

New tests for fragile X promise routine screening

by  /  11 October 2010

A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.

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September 2010

Molecular mechanisms: Fragile X mutation worsens memory loss

by  /  27 September 2010

Genes responsible for Alzheimer’s disease and fragile X syndrome — a form of mental retardation linked to autism — may operate through the same pathway, according to a study published in The Journal of Neuroscience.

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August 2010

Fragile X models give clues to stem cell programming

by  /  9 August 2010

Not all stem cells are created equal, a string of new studies suggests: adult cells that are reprogrammed into stem cells carry chemical remnants of the tissue from which they originate, making them distinct from embryonic stem cells. These differences may have important implications for studying fragile X syndrome and other diseases that arise from epigenetic glitches.

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May 2010

Microarray analysis deemed best genetic test for autism

by  /  28 May 2010

Chromosomal microarray analysis, which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, says a consortium of clinical geneticists. The recommendation comes on the heels of a study that found the test is three times more effective at spotting autism variants than are standard clinical methods.

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April 2010

Scientists find molecular player in Angelman syndrome

by  /  27 April 2010

Two independent teams have discovered key molecular steps in the way a single gene disrupts the connections between neurons in individuals with Angelman syndrome. Because the gene, UBE3A, has also been linked to autism, the findings could help scientists understand and treat a range of neurodevelopmental disorders.

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March 2010

Autism and fragile X feature immune signatures

by  /  30 March 2010

Scientists have identified distinct blood signatures of cytokines — proteins that control communication between cells of the immune system — in individuals with fragile X syndrome and autism.

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Delay found in development of fragile X brains

by  /  26 March 2010

Young mouse models of fragile X syndrome show a significant lag in the development of synapses, the connections between neurons, according to a study published in Neuron. The findings suggest that a similar mistiming may be responsible for the sensory problems — such as hypersensitivity to touch and sound — sometimes seen in people with fragile X syndrome.

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Evan Eichler: Following his instincts to autism ‘hotspots’

by  /  22 March 2010

With an openness to collaboration and a healthy dose of daring, Evan Eichler has turned his offbeat interest in repeat DNA sequences into a new understanding of how genomes evolve, expediting the search for genes disrupted in autism.

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April 2009

Fragile X protein may control sleep span, study suggests

by  /  16 April 2009

The genetic culprit in fragile X syndrome — a form of mental retardation frequently accompanied by autism — can alter how much fruit flies sleep, according to a study published in the Journal of Neuroscience.

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November 2008

Lithium’s effect on fragile X mice

by  /  18 November 2008

Lithium treatment reverses some of the behavioral and brain-cell abnormalities in mouse models of fragile X syndrome ― an inherited form of mental retardation that includes learning deficits, aggressiveness, and social withdrawal ― according to research presented today at the Society for Neuroscience meeting.

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