Research by Topic: Synapse

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Published June 26, 2019 in Stem Cell Reports

Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resource for functional studies of ten ASD-relevant genes (AFF2/FMR2, ANOS1, ASTN2, ATRX, CACNA1C, CHD8, DLGAP2, KCNQ2, SCN2A, TENM1). Neurogenin 2 (NGN2)-directed induction […]

https://www.cell.com/stem-cell-reports/fulltext/S2213-6711(18)30426-0?

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Special Report: Connectivity

Published March 25, 2013 in SFARI

This special report from the Simons Foundation looks at neural connectivity theories of autism.

http://sfari.org/news-and-opinion/specials/2013/connectivity/connectivity-special-report

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SFARI Gene

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.

https://gene.sfari.org/autdb/Welcome.do

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Scientists Home in on Autism Candidate Genes Role in Brain

Published November 26, 2012 in SFARI

Four new studies of neuroligin-1 (NLGN1), a gene linked to autism, unravel its complex role in regulating synapses, the connections between neurons.

http://sfari.org/news-and-opinion/news/2012/scientists-home-in-on-autism-candidate-gene-role-in-brain

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Rectifying Neuroligin Synthesis Reverses ASD Symptoms in Mice

Published November 21, 2012 in Nature

Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.

http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11628.html

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Postmortem Brain Analysis Points to Autism Candidate Genes

Published October 16, 2012 in SFARI

Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvards freezer malfunction.

http://sfari.org/news-and-opinion/conference-news/2012/society-for-neuroscience-2012/postmortem-brain-analysis-points-to-autism-candidate-genes

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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.

http://www.sciencemag.org/content/early/2012/09/12/science.1224159

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The Complement System: An Unexpected Role in Synaptic Pruning During Development and Disease

Published July 31, 2012 in Annual Review of Neuroscience, Stephan, Barres, Stevens

Researchers unexpectedly found that neural complement proteins may have a roll in the elimination of connections between brain cells, potentially driving disease progression.

http://www.ncbi.nlm.nih.gov/pubmed/22715882

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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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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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Synaptic Mutations Increase The Risk Of Autism Spectrum Disorders

Published February 13, 2012 in Medical News Today

A new study published in PLoS Genetics uses a combination of genetic and neurobiological approaches to confirm that synaptic mutations increase the risk of autism spectrum disorders (ASDs) and underlines the effect for modifier genes in these disorders.

Synaptic Mutations Increase The Risk Of Autism Spectrum Disorders

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Timothy Syndrome is Associated with Activity-dependent Dendritic Retraction in Rodent and Human Neurons

Published January 13, 2012 in Nature Neuroscience

Stanford researchers, including ASF Grantee Alex Shcheglovitov, discovered a key mechanism underlying Timothy syndrome, a disorder associated with ASD.

http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3307.html#/affil-auth

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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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Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Published November 25, 2011 in Medical News Today

In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

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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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Autism Spectrum Disorder Linked to Genetic Synaptic Behaviors

Published April 21, 2011 in Medical News Today

It seems that the place where your brain transfers electricity between synapses and how your genes determine how these processes function, are tied to autism in one way or another. There can be genetically driven disturbances in this process that lead to varying levels of autism according to a new study of DNA from approximately 1,000 autistic children and their kin.

http://www.medicalnewstoday.com/articles/223122.php

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Common Genetic Cause of Autism and Epilepsy Discovered

Published April 8, 2011 in Science Daily

Led by the neurologist Dr. Patrick Cossette, the research team found a severe mutation of the synapsin gene (SYN1) in all members of a large French-Canadian family suffering from epilepsy, including individuals also suffering from autism.

http://www.sciencedaily.com/releases/2011/04/110408075031.htm

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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.

http://www.sciencedaily.com/releases/2011/04/110406123019.htm

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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.

http://www.medicalnewstoday.com/articles/219485.php

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Gene Variants in Autism Linked to Brain Development

Published March 1, 2011 in Journal of Molecular Psychiatry, Gai et al.

This research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered. While the […]

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201110a.html

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Investigating Synapse Formation and Function Using Human Pluripotent Stem Cell-Derived Neurons

Published February 1, 2011 in PNAS, Kim et al.

Researchers at the University of California at San Diego established procedures for the induced differentiation of human embryonic stem cells and human induced pluripotent stem cells into forebrain neurons that are capable of forming synaptic connections—communicating messages. The cells containing autism-associated mutations were not able to induce presynaptic differentiation in human induced pluripotent stem cell-derived […]

http://www.pnas.org/content/108/7/3005.abstract

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How Cortical Nerve Cells Form Synapses With Neighbors

Published December 22, 2010 in Science Daily

Newly published research led by Professor Z. Josh Huang, Ph.D., of Cold Spring Harbor Laboratory (CSHL) sheds important new light on how neurons in the developing brain make connections with one another. This activity, called synapse validation, is at the heart of the process by which neural circuits self-assemble, and is directly implicated in pathology that gives rise to devastating neurodevelopmental disorders including autism and schizophrenia.

http://www.sciencedaily.com/releases/2010/12/101221141104.htm

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A Set Of Brain Proteins Is Found To Play A Role In Over 100 Brain Diseases And Provides A New Insight Into Evolution Of Behavior

Published December 21, 2010 in Medical News Today

In research just published, scientists have studied human brain samples to isolate a set of proteins that accounts for over 130 brain diseases. The paper also shows an intriguing link between diseases and the evolution of the human brain.

http://www.medicalnewstoday.com/articles/212064.php

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Modeling Autism in a Dish

Published November 12, 2010 in Medical News Today

A collaborative effort between researchers at the Salk Institute for Biological Studies and the University of California, San Diego, successfully used human induced pluripotent stem (iPS) cells derived from patients with Rett syndrome to replicate autism in the lab and study the molecular pathogenesis of the disease.

http://www.medicalnewstoday.com/articles/207664.php

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Better Way Developed to See Molecules at Work in Living Brain

Published October 12, 2010 in Science Daily

By creating a better way to see molecules at work in living brain cells, researchers affiliated with MIT’s Picower Institute for Learning and Memory and the MIT Department of Chemistry are helping elucidate molecular mechanisms of synapse formation. These studies could also help further understanding of how synapses go awry in developmental diseases such as autism and Fragile X syndrome.

http://www.sciencedaily.com/releases/2010/10/101007151212.htm

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Misfolded Neural Proteins Linked to Autism Disorders

Published September 11, 2010 in Science Daily

An international team of scientists, led by researchers at the University of California, San Diego, has identified misfolding and other molecular anomalies in a key brain protein associated with autism spectrum disorders.

http://www.sciencedaily.com/releases/2010/09/100910142751.htm

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Structural Basis for Autism Disorders

Published August 25, 2010 in Science Daily

There is still much that is unknown about autism spectrum disorders, but a University of Nevada, Reno psychologist has added to the body of knowledge that researchers around the world are compiling to try to demystify, prevent and treat the mysterious condition.

http://www.sciencedaily.com/releases/2010/08/100825174116.htm

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Researchers Connect APC Protein to Autism and Mental Retardation

Published August 24, 2010 in Medical News Today

A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC (adenomatous polyposis coli) plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.

http://www.medicalnewstoday.com/articles/198610.php

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Disturbances in Certain Genes Play a Role in Autism

Published August 17, 2010 in Medical News Today

Together with colleagues from an international research group, autism researcher Christopher Gillberg of the University of Gothenburg, Sweden, has found in a new study that autism can be partially explained by abnormalities in certain genes. The group’s results could, in the long run, pave the way for more appropriate treatments for autism.In the article the group reveals that a survey of 1,000 individuals with autism and 1,300 without showed that Copy Number Variants (CNVs) sub-microscopic abnormalities in the chromosomes are heavily over-represented in autistic people.

http://www.medicalnewstoday.com/articles/197875.php

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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.

http://www.sciencedaily.com/releases/2010/08/100810203501.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily+%28ScienceDaily%3A+Latest+Science+News%29

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Findings on Cell Interactions Published by U. Iowa Biologists

Published August 5, 2010 in Medical News Today

Two University of Iowa biologists have published a paper on how cells make specific interactions during development — in the hope of one day learning more about human developmental disorders.

http://www.medicalnewstoday.com/articles/196822.php

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New Autism Susceptibilty Genes Identified

Published June 10, 2010 in Medical News Today

Mount Sinai researchers and the Autism Genome Project Consortium (AGP) announced that they have identified new autism susceptibility genes that may lead to the development of new treatment approaches. These genes, which include SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus, primarily belong to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling

http://www.medicalnewstoday.com/articles/191404.php

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Mutations in the SHANK2 Synaptic Scaffolding Gene in Autism Spectrum

Published June 1, 2010 in Nature Genetics, Berkel et al

Using microarrays, the department of molecular human genetics in Heidelberg, Germany identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional […]

http://www.nature.com/ng/journal/v42/n6/abs/ng.589.html

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Schizophrenia Shares Genetic Links with Autism, Genome Study Shows

Published May 10, 2010 in Scientific American

Schizophrenia involves some of the same genetic variations as autism and attention deficit disorders, a new whole-genome study has confirmed. In an effort to assess some of the common genetic variations that might underpin this fairly common but thorny mental illness, researchers sequenced DNA from 1,735 adults with schizophrenia and 3,485 healthy adults. Across the patients that had the disease, the researchers found many frequent variations related to copying or deleting genes, known as copy-number variations.

http://www.scientificamerican.com/blog/post.cfm?id=schizophrenia-shares-genetic-links-2010-05-10

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Brain Development Steered By Newly Discovered RNA

Published April 16, 2010 in Medical News Today

New research from the lab of Michael Greenberg, Nathan Marsh Pusey professor and chair of neurobiology at HMS, in collaboration with bioinformatics specialist and neuroscientist Gabriel Kreiman, assistant professor of ophthalmology at Children’s Hospital, Boston, has found that a particular set of RNA molecules widely considered to be no more than a genomic oddity are actually major players in brain development – and are essential for regulating the process by which neurons absorb the outside world into their genetic machinery.

http://www.medicalnewstoday.com/articles/185564.php

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Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

Published June 1, 2009 in PLOS Genetics, Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al.

The study identified 27 different genetic regions where rare copy number variations – missing or extra copies of DNA segments – were found in the genes of children with autism spectrum disorders, but not in the healthy controls. The researchers, including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of […]

http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000536

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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 […]

http://www.pnas.org/content/106/6/2029.short

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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 […]

http://www.ncbi.nlm.nih.gov/pubmed/18568033

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Identifying autism Loci and Genes by Tracing Recent Shared Ancestry

Published July 31, 2008 in Science, Morrow, Yoo, et al

To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression […]

http://www.ncbi.nlm.nih.gov/pubmed/18621663

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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 […]

http://www.ncbi.nlm.nih.gov/pubmed/17940551

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