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Research by Topic: Mice Study
Mice with mutations in the autism-linked gene WDFY3 have enlarged brains reminiscent of those seen in some children with autism, finds a study published in Nature Communications. The brain overgrowth begins in the womb, the study found. WDFY3 plays a role in autophagy, a process that rids cells of damaged or unneeded parts. Mouse embryos with two copies of the mutant gene have enlarged brains and an excess of immature neurons that divide faster than usual. They also have misdirected patches of neurons. Similar changes have been observed in people with autism.
The motor problems seen in Rett syndrome may be the result of deficits in a pathway that mediates reward in the striatum, a brain region that coordinates movement, according to a study published in Brain Structure and Function. Studies have shown that loss of MeCP2 in the front of the brain is sufficient to lead to Rett-like symptoms in mice. The forebrain includes the striatum, which integrates information from other brain regions to help plan and coordinate movement. The new study found that mice that model Rett syndrome have significantly less dopamine a chemical messenger that mediates reward in the striatum than controls do. The study suggests that changes in dopamine levels influence neural circuits in the striatum that regulate motor function.
Mice with a duplication of SHANK3, a gene with strong links to autism, are hyperactive and manic, reports a study published in Nature.The mice produce about 50 percent more SHANK3 protein than their genetically typical counterparts, the scientists found, much like people with an extra copy of the gene do. The mice also show signs of hyperactivity. The team observed on further testing that the SHANK3 mice show behaviors typically seen in people going through manic episodes. The mice are easier to startle, eat more, have disrupted sleeping patterns and show heightened sensitivity to amphetamine. The mice also have spontaneous seizures.
More information has come about about the gut microbes study in Cell. “I’d want to know more about the mechanism by which the bacteria altered behavior in the mice before beginning to translate the findings to humans” says Emanuel DiCicco-Bloom, a neuroscientist at Rutgers University and member of the ASF Scientific Advisory Board.
Researchers have developed software that can automatically track and catalog the behavior of up to four mice at once. Mice are often used for autism research because they are easy to manipulate genetically. This new method, which involves using images taken by a heat-sensing camera and a new software algorithm, makes collecting research more efficient.
Researchers have developed a new test that reveals complex repetitive behaviors in BTBR mice, a mouse strain with features resembling those of autism, according to a study published in the Journal of Neuroscience Methods. Repetitive behavior is common in autism, and usually comes in two forms: repetitive actions, such as hand flapping or rocking, and higher-order symptoms, such as an insistence on sameness, or restricted interests. This second form is difficult to produce in mice, but these researchers believe they have been able to do it.
Researchers have recently discovered that two seemingly unrelated conditions, autism and cancer, share an unexpected connection. Some people with autism have specific mutated cancer or tumor genes that scientists believe caused their autism. While this does not apply to all people with autism, just the ones with the mutated gene, it is a very illuminating discovery in the field.
Professor Monica Justice has written a study on a connection between cholesterol and Rett Syndrome. Statin drugs, known to lower cholesterol, were shown to increase mobility, overall health scores, and lifespan in mice with Rett Syndrome.
Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.
Increasing the Gut Bacteria In Mice That Lack Them Helps Increase Their Sociability with Familiar MicePublished May 21, 2013 in Molecular Psychiatry
A new study finds that increasing the gut bacteria populations in mice that lack them helps to increase their sociability. The increase in sociability is mainly limited to familiar mice but the study does show support for the theory of a connection between the gut and autism in certain cases.
This interesting preliminary study examined whether typical mice could recognize atypical social behavior in ASD mouse models. Wild-type mouse ‘judges’ preferred to be in chambers with other typical mice rather than socially atypical mice, suggesting that typical mice can distinguish mice displaying autism-like behavior from controls.
SFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.
Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X MousePublished February 7, 2013 in Human Molecular Genetics
This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.
Maternal Autism-Associated IgG Antibodies Delay Development and Produce Anxiety In A Mouse Gestational Transfer ModelPublished November 15, 2012 in Journal of Neuroimmunology
“A murine passive transfer model system was employed to ascertain the effects of gestational exposure to a single, intravenous dose of purified, brain-reactive IgG antibodies from individual mothers of children with autism (MAU) or mothers with typically developing children (MTD). Growth and behavioral outcomes in offspring were measured from postnatal days 8 to 65 in each group. Comparisons revealed alterations in early growth trajectories, significantly impaired motor and sensory development, and increased anxiety. This report demonstrates for the first time the effects of a single, low dose gestational exposure of IgG derived from individual MAU on their offspring’s physical and social development.”
New genetic variants that increase susceptibility to autism are emerging at a rapid pace from scans for copy number variants (CNVs) deletions or duplications of DNA segments and next-generation sequencing. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.
Researchers from the University of California at San Diego published in Science that a rare form of autism tied to seizures and mental retardation may be treatable with a simple diet change or supplement.
Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.
Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.
“Increasing evidence highlights a role for the immune system in the pathogenesis of autism spectrum disorder (ASD), as immune dysregulation is observed in the brain, periphery, and gastrointestinal tract of ASD individuals. Furthermore, maternal infection (maternal immune activation, MIA) is a risk factor for ASD. Modeling this risk factor in mice yields offspring with the cardinal behavioral and neuropathological symptoms of human ASD.”
Scientists at MIT have found that TAOK2, a gene in the autism-associated chromosomal region, is part of a signaling pathway that builds neuronal connections during development.
Vanderbilt University researchers examine oxytocin and serotonin systems as biomarkers for autism spectrum disorders.
It is proposed that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype.
Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of AutismPublished April 25, 2012 in Science Translational Medicine
Using a mouse model with behaviors relevant to the three diagnostic behavioral symptoms of autism, researchers used a genetic approach to reduce repetitive behaviors and partially reverse the striking lack of sociability in these mice.
A new technology developed by neuroscientists at Cold Spring Harbor Laboratory (CSHL) transforms the way highly detailed anatomical images can be made of whole brains.
Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related DeficitsPublished September 30, 2011 in Cell
A new mouse model of autism, created by eliminating a gene strongly associated with the disorder in humans, shows promise for understanding the biology that underlies ASD and testing new treatments. By eliminating the CNTNAP2 gene (contactin associated protein-like 2), researchers were able to create mice with behaviors that closely mimicked those of its human […]
By mutating a single gene, researchers at MIT and Duke have produced mice with two of the most common traits of autism – compulsive, repetitive behavior and avoidance of social interaction. In this study, the researchers focused on one of the most common of those genes, known as shank3. Shank3 is found in synapses – the junctions between brain cells that allow them to communicate with each other. Feng, who joined MIT and the McGovern Institute last year, began studying shank3 a few years ago because he thought that synaptic proteins might contribute to autism and similar brain disorders, such as obsessive compulsive disorder.
When a gene implicated in human autism is disabled in mice, the rodents show learning problems and obsessive, repetitive behaviors, researchers at UT Southwestern Medical Center have found. The researchers also report that a drug affecting a specific type of nerve function reduced the obsessive behavior in the animals, suggesting a potential way to treat repetitive behaviors in humans