Current perspectives in autism spectrum disorder: From genes to therapy

Maria Chahrour, Brian J. O’Roak, Emanuela Santini, Rodney C. Samaco, Robin J. Kleiman, M. Chiara Manzini

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with high heritability and both phenotypic and genetic heterogeneity. To date, mutations in hundreds of genes have been associated to varying degrees with increased ASD risk. A better understanding of the functions of these genes and whether they fit together in functional groups or impact similar neuronal circuits is needed to develop rational treatment strategies.Wewill review current areas of emphasis in ASD research, starting from human genetics and exploring how mouse models of human mutations have helped identify specific molecular pathways (protein synthesis and degradation, chromatin remodeling, intracellular signaling), which are linked to alterations in circuit function and cognitive/social behavior. We will conclude by discussing how we can leverage the findings on molecular and cellular alterations found in ASD to develop therapies for neurodevelopmental disorders.

Original languageEnglish (US)
Pages (from-to)11402-11410
Number of pages9
JournalJournal of Neuroscience
Volume36
Issue number45
DOIs
StatePublished - Nov 9 2016

Keywords

  • Animal models
  • Autism spectrum disorder
  • Genetics
  • Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

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