Autism spectrum disorders and epigenetics

Journal of the American Academy of Child and Adolescent Psychiatry
Daria GrafodatskayaRosanna Weksberg

Abstract

Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD. In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD. Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic ...Continue Reading

References

Sep 15, 1991·American Journal of Medical Genetics·E Engel, C D DeLozier-Blanchet
Mar 1, 1990·American Journal of Medical Genetics·M G Butler
May 1, 1990·European Journal of Pediatrics·J D MorrowP J Accardo
Jan 1, 1986·American Journal of Medical Genetics·R J HagermanM Braden
Feb 1, 1996·Pediatric Neurology·S SteffenburgM Kyllerman
Mar 2, 1999·American Journal of Medical Genetics·T K MohandasJ B Moeschler
Jun 12, 1999·American Journal of Human Genetics·Y JiangA L Beaudet
Jul 7, 2000·Journal of Medical Genetics·S J MooreJ C Dean
Apr 24, 2001·Molecular Psychiatry·A M PersicoUNKNOWN Collaborative Linkage Study of Autism
Sep 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D C CrawfordS L Sherman
Mar 29, 2002·Molecular Psychiatry·E BonoraUNKNOWN International Molecular Genetic Study of Autism Consortium (IMGSAC)
Mar 29, 2002·Molecular Psychiatry·J D BuxbaumR Vitale
Jul 19, 2002·Journal of Cellular Physiology·Benjamin Tycko, Ian M Morison
Oct 18, 2002·Human Genetics·Kim S BeyerUNKNOWN International Molecular Genetic Study of Autism Consortium (IMGSAC)
Oct 26, 2002·Molecular Psychiatry·H ZhangJ J A Holden
Nov 20, 2002·American Journal of Human Genetics·Michael R DeBaunAndrew P Feinberg
Dec 11, 2002·Journal of Neurochemistry·Prakasham RumajogeeMarie-Christine Miquel
Jan 15, 2003·Journal of Medical Genetics·E R MaherM M Hawkins
May 29, 2003·Pediatric Neurology·Regina M CarneyMargaret A Pericak-Vance
Jun 5, 2003·Nature Reviews. Neuroscience·Fadel Tissir, André M Goffinet
Sep 30, 2003·Molecular Psychiatry·E BonoraUNKNOWN International Molecular Genetic Study of Autism (IMGSAC)
Mar 3, 2004·European Child & Adolescent Psychiatry·Marijcke W M VeltmanPatrick F Bolton
Mar 25, 2004·American Journal of Medical Genetics. Part a·Alice S M KauWalter E Kaufmann
Apr 14, 2004·Proceedings of the National Academy of Sciences of the United States of America·Raúl Fernández-GonzalezAlfonso Gutiérrez-Adán
May 29, 2004·Autism : the International Journal of Research and Practice·Anegen Trillingsgaard, John R ØStergaard
Jun 24, 2004·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Akane ShibayamaSteve S Sommer
Jul 13, 2004·Current Opinion in Neurology·Eric CourchesneDaniel P Kennedy
Sep 14, 2004·Mental Retardation and Developmental Disabilities Research Reviews·Diane C Chugani
Sep 25, 2004·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Jacob L McCauleyJames S Sutcliffe
Nov 4, 2004·Clinical Genetics·S U PetersC A Bacino
Nov 24, 2004·Molecular Psychiatry·D A SkaarM A Pericak-Vance
Jan 8, 2005·American Journal of Medical Genetics. Part a·Timothy S HartshorneKellie R Parker
Feb 3, 2005·American Journal of Medical Genetics. Part a·Isabel M SmithUNKNOWN Canadian Paediatric Surveillance Program
Feb 4, 2005·Journal of Medical Genetics·J A LambUNKNOWN International Molecular Genetic Study of Autism Consortium (IMGSAC)
Feb 18, 2005·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Hamid Mostafavi AbdolmalekyMing T Tsuang
Mar 31, 2005·Journal of Autism and Developmental Disorders·Marijcke W M VeltmanPatrick F Bolton

❮ Previous
Next ❯

Citations

Jul 8, 2011·Journal of Autism and Developmental Disorders·Maryam M AbdullahJonathon E Ericson
Mar 13, 2013·Journal of Autism and Developmental Disorders·Katja M LampiAndre Sourander
Nov 24, 2011·Journal of Community Genetics·György Kosztolányi
Oct 10, 2013·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Sampathkumar RangasamyVinodh Narayanan
Aug 21, 2013·Brain Research·Rebecca K SimmonsSarah M Clinton
Aug 8, 2012·Molecular Psychiatry·A EranL M Kunkel
Mar 14, 2013·Antioxidants & Redox Signaling·Gene H KimStephen L Archer
Mar 2, 2013·Nursing·Kathleen Peterson, Paula Barbel
Apr 5, 2011·Current Opinion in Psychiatry·Valsamma Eapen
Mar 20, 2013·Child and Adolescent Psychiatry and Mental Health·Michal Hrdlicka, Iva Dudova
Jul 12, 2011·Molecular Autism·Rob F Gillis, Guy A Rouleau
Apr 8, 2011·Pediatric Research·Pierre Gressens, Donna M Ferriero
May 1, 2012·Environmental Health Perspectives·Philip J LandriganLinda S Birnbaum
Jan 26, 2011·PloS One·Azhari AzizNaomi E Bishop
Oct 25, 2011·Epigenomics·Tabitha M Hardy, Trygve O Tollefsbol
Aug 24, 2013·International Journal of Environmental Research and Public Health·Kristen LyallCheryl K Walker
Aug 22, 2013·Biomicrofluidics·Toshiki MatsuokaShuichi Takayama
Apr 17, 2014·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Sven BöltePaul Lichtenstein
Aug 12, 2014·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Claude M J Braun, Carl Roberge
Apr 30, 2013·Medical Hypotheses·Ivan GentileCarmela Bravaccio
Feb 12, 2013·Neurotoxicology and Teratology·Florence I RoulletJane A Foster
Aug 23, 2011·Journal of Neurodevelopmental Disorders·Elisabeth M DykensElizabeth Roof
Apr 7, 2015·Progress in Biophysics and Molecular Biology·Kimberly R ShorterPaul B Vrana
Apr 14, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fiorella Gurrieri
Jun 13, 2015·Epigenetics : Official Journal of the DNA Methylation Society·Verity F OliverShannath L Merbs
Mar 1, 2012·Developmental Medicine and Child Neurology·William H James
Aug 13, 2011·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Sarika U PetersRachel J Hundley
Jul 25, 2013·Molecular Nutrition & Food Research·Vincent B Owona AyissiHermann Schluesenner
Nov 30, 2013·Genes, Brain, and Behavior·R M StillingJ F Cryan
Apr 17, 2016·Journal of the Neurological Sciences·N Thushara Vijayakumar, M V Judy
May 21, 2014·Developmental Medicine and Child Neurology·Sven Bölte
Jul 21, 2010·Journal of the American Academy of Child and Adolescent Psychiatry·James J Hudziak, Stephen V Faraone
Oct 13, 2015·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·M R Bennett, J Lagopoulos
May 20, 2015·Acta Paediatrica·Jelske W van der BurgAlan Leviton
Jul 30, 2015·American Journal of Medical Genetics. Part a·Logan K WinkCraig A Erickson
Nov 6, 2014·Autism Research : Official Journal of the International Society for Autism Research·Penelope A E MainMichael F Fenech

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Cancer Epigenetics & Metabolism (Keystone)

Epigenetic changes are present and dysregulated in many cancers, including DNA methylation, non-coding RNA segments and post-translational protein modifications. The epigenetic changes may or may not provide advantages for the cancer cells. This feed focuses on the relationship between cell metabolism, epigenetics and tumor differentiation.

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

Autism: Treatment Targets

The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological mechanisms, and the lack of reliable diagnostic biomarkers. Identification of more homogenous biological subgroups is therefore essential for the development of novel treatments based on the molecular mechanisms underpinning autism and autism spectrum disorders. Find the latest research on autism treatment targets here.

Related Papers

Human Molecular Genetics
N Carolyn Schanen
Journal of Child Psychology and Psychiatry, and Allied Disciplines
Ann Le CouteurM Rutter
The European Journal of Neuroscience
Sol Díaz de León-GuerreroLeonor Pérez-Martínez
© 2021 Meta ULC. All rights reserved