Research by Topic: Animal Models

Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition

Published June 26, 2019

Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we found that brief treatment with romidepsin, a highly potent class I histone deacetylase (HDAC) inhibitor, alleviated social deficits in Shank3-deficient mice, which persisted for ~3 weeks. HDAC2 transcription was upregulated in […]

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Podcast: Are animal models for ASD a monkey wrench or useful tool?

Published June 19, 2019

A new animal model of autism appeared this week:  the monkey.  This adds to the ever growing list of different model systems from autism, from fruit flies to mice and rats now up to monkeys.  Are these animal models useful and for what, and why isn’t there just ONE model of autism rather than the […]

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What Happened This Year in Autism Research? A look back at 2018

Published January 5, 2019

This year, more than before, scientists were able to show that autism is a spectrum within a spectrum of other neuropsychiatric issues.  There are similarities across diagnoses, and genetic profiles of those with autism, ADHD, OCD, bipolar depression and schizophrenia.  There were also major accomplishments in understanding the role of the environment, behavioral and pharmacological […]

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Podcast: An ode to rats as animal models for autism

Published February 12, 2018

On this week’s podcast, a study led by Elizabeth Berg in the lab of Dr. Jill Silverman at UC Davis published in the journal Autism Research demonstrated SHANK3’s role in core social communication deficits in a rat model of autism. Rats exhibit both receptive and expressive communication. SHANK3 mutations are seen in those with Phelan-McDermid […]

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Highlights from the International Meeting for Autism Research

Published May 19, 2016

Last week, over 2000 autism researchers convened in Baltimore, Maryland for the largest meeting in the world dedicated to sharing the latest information in autism research.  This week’s podcast summarizes some of the meeting, with help from the ASF travel awardees.  The topics ranged from causes (genetic and environmental) to interventions in real-world settings to […]

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Better animal model, new drug target discovered at Duke

Published May 10, 2016

Scientists at Duke Health, including ASF fellow Alexandra Bey, recently showed that targeting a brain receptor in mice with a specific type of autism could ease repetitive behaviors and improve learning in some animals. This report, published in Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror […]

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A quick recap of the ASF Day of Learning

Published April 18, 2016

On this week’s podcast, the #ASFautismTed talks will be summarized in 10 minutes.  The podcast also includes pictures from the day in the video portion.  The full talks will be up on the ASF website soon, but if you can’t wait, here is a recap:

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Spinning System Turns Stem Cells Into Mini-Brains

Published October 30, 2013 in Simons Foundation Autism Research Institute

Researchers have coaxed human stem cells to develop into simplified mini-brains, with regions resembling discrete brain structures, reported in the journal Nature. A spinning culture system prods stem cells to develop into neurons in three dimensions. The culture system is a gelatinous protein-rich mixture that provides both the structural support and nutrients required for neuronal development. Already, the researchers have shown that these artificial brains may model human disorders better than real mouse brains do.

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Increasing the Gut Bacteria In Mice That Lack Them Helps Increase Their Sociability with Familiar Mice

Published 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.

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Published February 21, 2013 in SFARI

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.

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Letting a Typical Mouse Judge Whether Mouse Social Interactions are Atypical

Published February 21, 2013 in Autism Research

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.

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Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X Mouse

Published 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.

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FMRP Targets Distinct mRNA Sequence Elements to Regulate Protein Expression

Published December 12, 2012 in Nature

Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.

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Maternal Autism-Associated IgG Antibodies Delay Development and Produce Anxiety In A Mouse Gestational Transfer Model

Published 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.”

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Researchers Swing Toward Monkey Models of Autism

Published October 18, 2012 in SFARI

Scientists reveal efforts to create transgenic monkey models of autism. Compared to mice and rats, these animals are more genetically similar to humans, and display more complex social and communicative behaviors.

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SFARI Reviews Mouse Models Used in Autism Genetics Research

Published September 25, 2012 in Simons Foundation Autism Research Initiative

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.

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Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

Published September 13, 2012 in Science

A new study finds that faulty neuronal circuits in autistic brains can be corrected even after the critical window of brain development.

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Modeling an Autism Risk Factor in Mice Leads to Permanent Immune Dysregulation

Published July 31, 2012 in Proceedings of the National Academy of Sciences

“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.”

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Simple Worms could Help Unravel Complex Human Brains

Published July 25, 2012 in Simons Foundation Austism Research Initiative

The nematode “Caenorhabditis elegans” may serve as a useful model to study synapses, the junctions between neurons.

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Researchers at MIT Use Zebrafish to Better Understand the Genetics of Autism

Published June 19, 2012 in

Researchers at MIT use zebrafish to better understand the genetics of autism.

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Seizures in Angelman Syndrome Could be Linked to an Imbalance in Brain Activity

Published June 6, 2012 in UNC School of Medicine

Researchers led by Dr. Ben Philpot, an ASF funded mentor, at UNC School of Medicine found that seizures in individuals with Angelman syndrome could be linked to an imbalance in brain cell activity. Angelman syndrome exhibits frequent comorbidity with autism spectrum disorders.

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New Clinical Study Evaluates First Drug to Show Improvement in Subtype of Autism

Published April 26, 2012 in EurekAlert

In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).

New clinical study evaluates first drug to show improvement in subtype of autism

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Agent Reduces Autism-like Behaviors in Mice

Published April 26, 2012 in NIMH

National Institutes of Health researchers have reversed behaviors in mice resembling two of the three core symptoms of autism spectrum disorders (ASD). An experimental compound, called GRN-529, increased social interactions and lessened repetitive self-grooming behavior in a strain of mice that normally display such autism-like behaviors, the researchers say.

Agent Reduces Autism-like Behaviors in Mice

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Mouse Model Provides Clues to Autism

Published March 22, 2012 in PsychCentral

Vanderbilt scientists report that a disruption in serotonin transmission in the brain may be a contributing factor for autism spectrum disorder (ASD) and other behavioral conditions.

Mouse Model Provides Clues to Autism

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Bone-marrow Transplant Reverses Rett Syndrome in Mice

Published March 17, 2012 in Nature Magazine

A bone-marrow transplant can treat a mouse version of Rett syndrome, a severe autism spectrum disorder that affects roughly 1 in 10,00020,000 girls born worldwide (boys with the disease typically die within a few weeks of birth).

Bone-marrow transplant reverses Rett syndrome in mice

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New Research Might Help Explain How a Gene Mutation Found in some Autistic Individuals Leads to Difficulties in Processing Auditory Cues and Paying Spatial Attention to Sound.

Published February 2, 2012 in Science Daily

New research from Cold Spring Harbor Laboratory (CSHL) might help explain how a gene mutation found in some autistic individuals leads to difficulties in processing auditory cues and paying spatial attention to sound.

New research might help explain how a gene mutation found in some autistic individuals leads to difficulties in processing auditory cues and paying spatial attention to sound.

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Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological Disorders

Published January 27, 2012 in Science Daily

Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells — brain-derived neurotrophic factor (BDNF) — is severely lacking in brainstem neurons in mutations leading to Rett syndrome, a neurological developmental disorder.

Brain-Derived Neurotrophic Factor: Finding May Have Implications for Rett Syndrome, Other Neurological Disorders

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Autism may be linked to abnormal immune system characteristics and novel protein fragment

Published January 3, 2012 in MedicalXpress

Immune system abnormalities that mimic those seen with autism spectrum disorders have been linked to the amyloid precursor protein (APP), reports a research team from the University of South Florida’s Department of Psychiatry and the Silver Child Development Center.

Autism may be linked to abnormal immune system characteristics and novel protein fragment

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Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways

Published December 19, 2011 in Medical News Today

About half of newborns who have seizures go on to have long-term intellectual and memory deficits and cognitive disorders such as autism, but why this occurs has been unknown. In the December 14 Journal of Neuroscience, researchers at Children’s Hospital Boston detail how early-life seizures disrupt normal brain development, and show in a rat model that it might be possible to reverse this pathology by giving certain drugs soon after the seizure.

Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways

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How Brain’s Structure And Genes Affect Autism And Fragile X Syndrome

Published November 17, 2011 in Medical News Today

Research just released shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome.

How Brain's Structure And Genes Affect Autism And Fragile X Syndrome

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Researchers debut SHANK2 mouse, SHANK3 rat

Published November 15, 2011 in SFARI

Researchers debut the SHANK2 mouse and SHANK3 rat at the 2011 Society for Neuroscience annual meeting. SHANK2 belongs to the same family as SHANK3, a well-established autism candidate gene.

Click to read the article

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Study In Fruit Flies Has Implications For Autism, Other Cognitive Impairment Syndromes

Published November 1, 2011 in Medical News Today

Loss of FMR1 function is the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others…

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Common Form Of Autism Recreated In New Mouse Model

Published October 7, 2011 in Medical News Today

Research team from Beth Israel Deaconess Medical Center (BIDMC) has created a genetically engineered mouse with increased dosages of the Ube3 gene. And, like the patients who also harbor increased dosages of this single gene, the genetically engineered mice exhibit robust examples of all three traits considered hallmarks of autism: reduced social interaction, impaired communication and excessive repetitive behaviors. Findings provide further clues in understanding the brain defects that lead to the development of autism, and offer an important tool for future use by scientists and clinicians to test possible drug therapies.

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Evidence found for the genetic basis of autism: Models of autism show that gene copy number controls

Published October 5, 2011 in Science Daily

Scientists at Cold Spring Harbor Laboratory (CSHL) have discovered that one of the most common genetic alterations in autism — deletion of a 27-gene cluster on chromosome 16 — causes autism-like features. By generating mouse models of autism using a technique known as chromosome engineering, CSHL Professor Alea Mills and colleagues provide the first functional evidence that inheriting fewer copies of these genes leads to features resembling those used to diagnose children with autism.

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‘Autistic’ mice created and treated

Published October 3, 2011 in New Scientist

A new strain of mice engineered to lack a gene with links to autism displays many of the hallmarks of the condition. It also responds to a drug in the same way as people with autism, which might open the way to new therapies for such people.

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Animal Model Research Could Lead To The Development Of Diagnostic Tests For Autism Based On Biomarkers

Published September 14, 2011 in Medical News Today

The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions and treatments.

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Autism-Related Study Discovers How Drug Interferes with Neuronal Cell Function

Published July 7, 2011 in Science Daily

This study examined mouse neuronal cells during pregnancy to discover how the drug actually interferes at a molecular level with prostaglandins, which are important for development and communication of cells in the brain.

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Social Bonding in Prairie Voles Helps Guide Search for Autism Treatments

Published April 28, 2011 in Emory Woodruff Health Sciences Center

Researchers at the Center for Translational Social Neuroscience (CTSN) at Emory University are focusing on prairie voles as a new model to screen the effectiveness of drugs to treat autism. They are starting with D-cycloserine, a drug Emory researchers have shown enhances behavioral therapy for phobias and also promotes pair bonding among prairie voles. Giving female voles D-cycloserine, which is thought to facilitate learning and memory, can encourage them to bond with a new male more quickly than usual.

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Gene Linked to Severity of Autism’s Social Dysfunction Identified

Published April 7, 2011 in Science Daily

With the help of two sets of brothers with autism, Johns Hopkins scientists have identified a gene associated with autism that appears to be linked very specifically to the severity of social interaction deficits. The gene, GRIP1 (glutamate receptor interacting protein 1), is a blueprint for a traffic-directing protein at synapses — those specialized contact points between brain cells across which chemical signals flow.

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MIT Researchers Recreate Autism in Mice

Published March 20, 2011 in Medical News Today

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.

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Shank3 Mutant Mice Display Autistic-like Behaviors and Striatal Dysfunction

Published March 1, 2011

Currently, the neurological basis of autism spectrum disorders (ASDs) is poorly understood. “Shank3 is a postsynaptic protein, whose disruption at the genetic level is thought to be responsible for the development of 22q13 deletion syndrome (Phelan-McDermid syndrome) and other non-syndromic ASDs”. In this study, mice with the Shank3 deletion were seen to exhibit “self-injurious repetitive […]

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Serotonin Plays Role in Many Autism Cases, Studies Confirm

Published February 24, 2011 in Science Daily

Georgianna Gould, Ph.D., research assistant professor of physiology in the Graduate School of Biomedical Sciences, is eyeing the role that serotonin plays in autism spectrum disorders. Serotonin is known for giving a sense of well-being and happiness. It is a neurotransmitter, a chemical that acts like a radio tower in the brain conveying signals among cells called neurons. Thirty percent of autism cases may have a serotonin component. In a recent paper in the Journal of Neurochemistry, Dr. Gould and colleagues showed that a medication called buspirone improved the social behaviors of mice. Buspirone is approved by the U.S. Food and Drug Administration for use in adults as an anti-anxiety and antidepressant adjuvant medication.

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Researchers Develop Mouse Model To Help Find How A Gene Mutation Leads To Autism

Published December 20, 2010 in Medical News Today

Researchers from Mount Sinai School of Medicine have found that when one copy of the SHANK3 gene in mice is missing, nerve cells do not effectively communicate and do not show cellular properties associated with normal learning. This discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders (ASDs). The research is currently published in Molecular Autism.

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Autism Treatment: Researchers Identify Possible Treatment for Impaired Sociability

Published December 8, 2010 in Science Daily

Eastern Virginia Medical School researchers have identified a potential novel treatment strategy for the social impairment of people with Autism Spectrum Disorders (ASD), an aspect of the condition that has a profound impact on quality of life.

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Smoking during Pregnancy affects Myelin Genes in Offspring

Published November 16, 2010 in Science Daily

Smoking during pregnancy may interfere with brain development. New animal research shows maternal smoking affects genes important in the formation and action of a fatty brain substance called myelin that insulates brain cell connections. The finding may explain why the children of mothers who smoked during pregnancy are more likely to develop attention deficit hyperactivity disorder, depression, autism, drug abuse, and other psychiatric disorders.

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Inhibitory Neurons Key to Understanding Neuropsychiatric Disorders

Published November 11, 2010 in Science Daily

In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi and her colleagues identified mutations in the gene called MECP2 as the culprit in a devastating neurological disorder called Rett syndrome . In new research in mice published in the current issue of the journal Nature, Zoghbi and her colleagues demonstrate that the loss of the protein MeCP2 in a special group of inhibitory nerve cells in the brain reproduces nearly all Rett syndrome features.

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Neurogenetics Research Sheds Light on the Causes of Neurological Disease

Published October 21, 2010 in Science Daily

The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders. Research developments in this area have revealed fundamental insights into the genes and molecular pathways that underlie neurological and psychiatric diseases. In a new series of review articles, experts in the field discuss exciting recent advances in neurogenetics research and the potential implications for the treatment of these devastating disorders.

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How Immune Response in Pregnancy May Lead to Brain Disfunction in Offspring

Published October 14, 2010 in Science Daily

A pregnant woman’s immune response to viral infections may induce subtle neurological changes in the unborn child that can lead to an increased risk for neurodevelopmental disorders including schizophrenia and autism.

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Preventing Life Threatening Breathing Disorder of Rett Syndrome

Published October 5, 2010 in Medical News Today

A group of researchers at the University of Bristol have sequestered the potentially fatal breath holding episodes associated with the autistic-spectrum disorder Rett syndrome. Using a unique combination of drugs, they have discovered that the area of the brain that allows breathing to persist throughout life without interruption has reduced levels of a transmitter substance called aminobutyric acid.

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Scientists Identify New Drug Strategy Against Fragile X Syndrome

Published August 10, 2010 in Science Daily

Researchers at Emory University School of Medicine have identified a potential new strategy for treating fragile X syndrome — the most common inherited cause of intellectual disability. The researchers have found that a class of drugs called phosphoinositide-3 (PI3) kinase inhibitors can correct defects in the anatomy of neurons seen in a mouse model of fragile X syndrome.

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Immune System Troubles Could Spark Behavior Woes

Published May 27, 2010 in Bloomberg Businessweek

In the first scientific illustration of exactly how some psychiatric illnesses might be linked to an immune system gone awry, researchers report they cured mice of an obsessive-compulsive condition known as “hair-pulling disorder” by tweaking the rodents’ immune systems.

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Mt. Sinai Identifies First Drug to Demonstrate Therapeutic Effect in a Type of Autism

Published May 20, 2010 in EurekAlert

Researchers from Mount Sinai School of Medicine have identified a drug that improves communication between nerve cells in a mouse model of Phelan-McDermid Syndrome (PMS). Behavioral symptoms of PMS fall under the autism spectrum disorder category.

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Autism and Schizophrenia: Research Builds on Genetic Link

Published February 24, 2010 in Medical News Today

A genetic link between schizophrenia and autism is enabling researchers to study the effectiveness of drugs used to treat both illnesses. Dr. Steve Clapcote from the University of Leeds’s Faculty of Biological Sciences will be analyzing behavior displayed by mice with a genetic mutation linked to schizophrenia and autism and seeing how antipsychotic drugs affect their behavioral abnormalities.

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Gene Mutation is Linked to Autism-Like Symptoms in Mice, Reseachers Find

Published February 24, 2010 in Science Daily

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

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Link Between Genetic Defect And Brain Changes In Schizophrenia Demonstrated

Published October 17, 2009 in Science Daily

Researchers at the University of North Carolina at Chapel Hill School of Medicine have found that the 22q11 gene deletion — a mutation that confers the highest known genetic risk for schizophrenia — is associated with changes in the development of the brain that ultimately affect how its circuit elements are assembled.The researchers would now like to figure out how these alterations in the circuitry of the brain affect the behavior of the mouse. They also hope that understanding the “mis-wiring” of the brain in a genetic animal model of schizophrenia would help them understand the causes of the disease in the general population

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Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

Published February 1, 2009 in PNAS, Sur, Tropea, Giacometti, et al.

Rett Syndrome (RTT) is a severe form of X-linked mental retardation caused by mutations in the gene coding for methyl CpG-binding protein 2 (MECP2). Mice deficient in MeCP2 have a range of physiological and neurological abnormalities that mimic the human syndrome. Here we show that systemic treatment of MeCP2 mutant mice with an active peptide […]

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Antibodies Against Fetal Brain in Sera of Mothers with Autistic Children

Published December 1, 2008 in Journal of Neuroimmunology, Singer, Morris, Gause, Gillin, Crawford, Zimmerman

Serum antibodies in 100 mothers of children with autistic disorder (MCAD) were compared to 100 age-matched mothers with unaffected children (MUC) using as antigenic substrates human and rodent fetal and adult brain tissues, GFAP, and MBP. MCAD had significantly more individuals with Western immunoblot bands at 36 kDa in human fetal and rodent embryonic brain […]

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Tuberous Sclerosis Complex Proteins Control Axon Formation

Published September 15, 2008 in Genes Development, Choi, DiNardo, et al

Axon formation is fundamental for brain development and function. TSC1 and TSC2 are two genes, mutations in which cause tuberous sclerosis complex (TSC), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. Here we show that Tsc1 and Tsc2 have critical functions in mammalian axon formation and growth. Overexpression […]

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Reversal of Learning Deficits in a Ts2+/- Mouse Model of Tuberous Sclerosis

Published August 31, 2008 in Nature Medicine, Ehninger, Han, et al

Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with mental retardation, autism and epilepsy. Even individuals with tuberous sclerosis and a normal intelligence quotient (approximately 50%) are commonly affected with specific neuropsychological problems, including long-term and working memory deficits. Here we […]

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Stereotypes and Hyperactivity in Rhesus Monkeys Exposed to IgG from Mothers of Children with Autism

Published August 31, 2008 in Brain Behavior Immunology, Martin, Ashwood, Braunschweig, Cabanlit, Van de Water, Amaral

One proposed cause of ASD is exposure of the fetal brain to maternal autoantibodies during pregnancy [Dalton, P., Deacon, R., Blamire, A., Pike, M., McKinlay, I., Stein, J., Styles, P., Vincent, A., 2003. Maternal neuronal antibodies associated with autism and a language disorder. Ann. Neurol. 53, 533-537]. To provide evidence for this hypothesis, four rhesus […]

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MeCP2, A Key Contributor to Neurological Disease, Activates and Represses Transcription

Published May 30, 2008 in Science, Chahrour, Jung et al

Mutations in the gene encoding the transcriptional repressor methyl-CpG binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome. Loss of function as well as increased dosage of the MECP2 gene cause a host of neuropsychiatric disorders. To explore the molecular mechanism(s) underlying these disorders, we examined gene expression patterns in the hypothalamus of mice […]

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Fragile X: Translation in Action

Published January 31, 2008 in Neuropshcyopharmacology, Bear, Dolen et al

Fragile X is a synapsopathy–a disorder of synaptic function and plasticity. Recent studies using mouse models of the disease suggest that the critical defect is altered regulation of synaptic protein synthesis. Various strategies to restore balanced synaptic protein synthesis have been remarkably successful in correcting widely varied mutant phenotypes in mice. Insights gained by the […]

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Molecular Cytogenetic Analysis and Resequencing of Contactin Associate Protein-Like 2 in Autism Spectrum Disorders

Published January 10, 2008 in American Journal of Human Genetics, Bakkaloglu, O'Roak, et al

Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology. We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with cognitive and social delay. We focused our initial analysis on CNTNAP2 based on our demonstration of […]

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