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posted Feb 14, 2017, 10:49 AM by JF. BCBAService

Neuroscientists reverse autism symptoms

Turning on a gene later in life can restore typical behavior in mice.

Anne Trafton | MIT News Office 
February 17, 2016



Autism has diverse genetic causes, most of which are still unknown. About 1 percent of people with autism are missing a gene called Shank3, which is critical for brain development. Without this gene, individuals develop typical autism symptoms including repetitive behavior and avoidance of social interactions.

In a study of mice, MIT researchers have now shown that they can reverse some of those behavioral symptoms by turning the gene back on later in life, allowing the brain to properly rewire itself.

“This suggests that even in the adult brain we have profound plasticity to some degree,” says Guoping Feng, an MIT professor of brain and cognitive sciences. “There is more and more evidence showing that some of the defects are indeed reversible, giving hope that we can develop treatment for autistic patients in the future.”

Feng, who is the James W. and Patricia Poitras Professor of Neuroscience and a member of MIT’s McGovern Institute for Brain Research and the Stanley Center for Psychiatric Research at the Broad Institute, is the senior author of the study, which appears in the Feb. 17 issue of Nature. The paper’s lead authors are former MIT graduate student Yuan Mei and former Broad Institute visiting graduate student Patricia Monteiro, now at the University of Coimbra in Portugal.

posted Feb 14, 2017, 10:47 AM by JF. BCBAService


Autism Epigenetic Signature Detected Through Histone Acetylation-Wide Association Study

Nov 17, 2016

NEW YORK (GenomeWeb) – The tremendous clinical and genetic heterogeneity of autism spectrum disorder (ASD) may belie shared epigenetic underpinnings for many idiopathic and syndromic ASD cases, a new study suggests.

"Epigenome profiling has allowed us to see shared, unifying themes in what is often considered to be an amalgam of many different diseases rather than one single disease," co-senior author Daniel Geschwind, a neurogenetics researcher at the University of California at Los Angeles, said in a statement.

Epigenetics of autism spectrum disorders

posted Feb 14, 2017, 10:44 AM by JF. BCBAService

Epigenetics of autism spectrum disorders 

Hum Mol Genet (2006) 15 (suppl_2): R138-R150.
15 October 2006
Article history
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The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11–13. Thus, parent of origin effects on sharing and linkage to imprinted regions on chromosomes 15q and 7q suggest that these regions warrant specific examination from an epigenetic perspective, particularly because epigenetic modifications do not change the primary genomic sequence, allowing risk epialleles to evade detection using standard screening strategies. This review examines the potential role of epigenetic factors in the etiology of ASD.

Autism as a disorder of biological and behavioral rhythms: toward new therapeutic perspectives

posted Feb 14, 2017, 10:42 AM by JF. BCBAService


Front. Pediatr., 23 February 2015 |

Autism as a disorder of biological and behavioral rhythms: toward new therapeutic perspectives

imageSylvie Tordjman1,2*, imageKatherine S. Davlantis3imageNicolas Georgieff4imageMarie-Maude Geoffray4imageMario Speranza5imageGeorge M. Anderson6imageJean Xavier7imageMichel Botbol1,8imageCécile Oriol2imageEric Bellissant9,10imageJulie Vernay-Leconte11imageClaire Fougerou9,10imageAnne Hespel9,10imageAude Tavenard9,10imageDavid Cohen7imageSolenn Kermarrec1,2imageNathalie Coulon1imageOlivier Bonnot1 and imageGeraldine Dawson3
  • 1Laboratoire Psychologie de la Perception, Université Paris Descartes, CNRS, UMR 8158, Paris, France
  • 2Pôle Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent (PHUPEA), Centre Hospitalier Guillaume Régnier, Université de Rennes 1, Rennes, France
  • 3Department of Psychiatry and Behavioral Sciences, Duke University School of Medicine, Durham, NC, USA
  • 4Department of Child and Adolescent Psychiatry, Centre Hospitalier Le Vinatier, Lyon, France
  • 5Department of Child and Adolescent Psychiatry, Centre Hospitalier de Versailles, Université de Versailles Saint-Quentin-en-Yvelines, Le Chensay, France
  • 6Child Study Center, Yale University School of Medicine, New Haven, CT, USA
  • 7Department of Child and Adolescent Psychiatry, Assistance Publique – Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, CNRS FRE 2987, University Pierre and Marie Curie, Paris, France
  • 8Service Hospitalo-Universitaire de Psychiatrie de l’Enfant et de l’Adolescent, CHU de Brest, Université de Bretagne Occidentale, Brest, France
  • 9Clinical Investigation Center, INSERM CIC 0203, University Hospital, Rennes 1 University, Rennes, France
  • 10Department of Clinical Pharmacology, University Hospital, Rennes 1 University, Rennes, France
  • 11Pôle Hospitalo-Universitaire de Psychiatrie Adulte (PHUPA), Centre Hospitalier Guillaume Régnier, Université de Rennes 1, Rennes, France

There is a growing interest in the role of biological and behavioral rhythms in typical and atypical development. Recent studies in cognitive and developmental psychology have highlighted the importance of rhythmicity and synchrony of motor, emotional, and interpersonal rhythms in early development of social communication. The synchronization of rhythms allows tuning and adaptation to the external environment. The role of melatonin in the ontogenetic establishment of circadian rhythms and the synchronization of the circadian clocks network suggests that this hormone might be also involved in the synchrony of motor, emotional, and interpersonal rhythms. Autism provides a challenging model of physiological and behavioral rhythm disturbances and their possible effects on the development of social communication impairments and repetitive behaviors and interests. This article situates autism as a disorder of biological and behavioral rhythms and reviews the recent literature on the role of rhythmicity and synchrony of rhythms in child development. Finally, the hypothesis is developed that an integrated approach focusing on biological, motor, emotional, and interpersonal rhythms may open interesting therapeutic perspectives for children with autism. More specifically, promising avenues are discussed for potential therapeutic benefits in autism spectrum disorder of melatonin combined with developmental behavioral interventions that emphasize synchrony, such as the Early Start Denver Model.

The role of epigenetic change in autism spectrum disorders

posted Feb 14, 2017, 10:40 AM by JF. BCBAService   [ updated Feb 14, 2017, 10:41 AM ]


Front. Neurol., 26 May 2015 |

The role of epigenetic change in autism spectrum disorders

  • 1Murdoch Childrens Research Institute, Royal Children’s Hospital and Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia
  • 2Melbourne Brain Centre, Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by problems with social communication, social interaction, and repetitive or restricted behaviors. ASD are comorbid with other disorders including attention deficit hyperactivity disorder, epilepsy, Rett syndrome, and Fragile X syndrome. Neither the genetic nor the environmental components have been characterized well enough to aid diagnosis or treatment of non-syndromic ASD. However, genome-wide association studies have amassed evidence suggesting involvement of hundreds of genes and a variety of associated genetic pathways. Recently, investigators have turned to epigenetics, a prime mediator of environmental effects on genomes and phenotype, to characterize changes in ASD that constitute a molecular level on top of DNA sequence. Though in their infancy, such studies have the potential to increase our understanding of the etiology of ASD and may assist in the development of biomarkers for its prediction, diagnosis, prognosis, and eventually in its prevention and intervention. This review focuses on the first few epigenome-wide association studies of ASD and discusses future directions.

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