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Spectrum: Autism Research News

Tag: FMRP

June 2014

Molecular mechanisms: Fragile X gene tied to cocaine effects

by  /  24 June 2014

The protein missing in fragile X syndrome is necessary for mice to respond to the stimulant cocaine, according to a study published 7 May in Neuron.

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List of gene ‘hot spots’ is rich with autism mutations

by  /  16 June 2014

Researchers have identified nearly 4,000 genetic regions that may be critical for brain function, and harbor mutations involved in disorders such as autism, they reported 25 May in Nature Genetics.

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Molecular mechanisms: DNA loops shut down fragile X gene

by  /  10 June 2014

A repeated sequence within the gene mutated in fragile X syndrome forms unusual loops of genetic material, reports a study published 17 April in PLoS Genetics. The loops may trigger a cascade of genetic changes that push a precursor mutation into one that causes the disorder.

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May 2014

Signaling pathways link autism, schizophrenia

by  /  27 May 2014

Autism, schizophrenia and intellectual disability share underlying deficits in pathways that regulate how the brain encodes new experiences, says Jason Shepherd.

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Molecular mechanisms: Fragile X protein promotes pruning

by  /  13 May 2014

FMRP, the protein absent or mutated in fragile X syndrome, aids in strategic elimination of neuronal connections during brain development in mice, according to a study published 26 February in The Journal of Neuroscience.

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Fragile X symptoms don’t add up to autism, studies suggest

by  /  8 May 2014

Roughly one-third of children with fragile X syndrome also have an autism diagnosis. Studies published in the past few months, however, suggest that the set of autism-like symptoms seen in people with fragile X syndrome may only resemble autism superficially.

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March 2014

Genetics: Fragile X mutation leads to syndrome

by  /  11 March 2014

A teenager with fragile X syndrome carries a rare mutation that changes a single amino acid in the FMRP protein, researchers reported 22 January in the European Journal of Human Genetics.

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January 2014

Spontaneous and rare mutations are key in schizophrenia

by  /  30 January 2014

Spontaneous and rare mutations, particularly in genes related to networks that regulate neuronal connections, contribute a small but significant proportion of the risk for schizophrenia, report two large studies published online 22 January in Nature.

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December 2013

Molecular mechanisms: Enzyme blockers help fragile X mice

by  /  13 December 2013

Lithium and other drugs that inhibit a key enzyme called GSK-3 reverse cognitive deficits in a mouse model of fragile X syndrome, according to a pair of studies published in August and September. 

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November 2013

Studies map gene expression across brain development

by  /  21 November 2013

Now that genetic studies have implicated several hundred genes in autism, researchers are turning their attention to where and when in the healthy young brain these genes are expressed. The first two studies to tackle these questions appear today in Cell.

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