title: Fragile X syndrome: from targets to treatments.
abstract: Fragile X syndrome (FXS) is one of the most prevalent and well-studied monogenetic causes of intellectual disability and autism and, although rare, its high penetrance makes it a desirable model for the study of neurodevelopmental disorders more generally. Indeed recent studies suggest that there is functional convergence of a number of genes that are implicated in intellectual disability and autism indicating that an understanding of the cellular and biochemical dysfunction that occurs in monogenic forms of these disorders are likely to reveal common targets for therapeutic intervention. Fundamental research into FXS has provided a wealth of information about how the loss of function of the fragile X mental retardation protein results in biochemical, anatomical and physiological dysfunction leading to the discovery of interventions that correct many of the core pathological phenotypes associated with animal models of FXS. Most promisingly such strategies have led to development of drugs that are now in clinical trials. This review highlights how progress in understanding disorders such as FXS has led to a new era in which targeted molecular treatment towards neurodevelopmental disorders is becoming a reality. This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'.
authors.affiliation: Patrick Wild Centre, Centre for Integrative Physiology, University of Edinburgh, EH8 9XD, UK.
authors.forename: Lasani S
authors.initials: LS
authors.lastname: Wijetunge
authors.forename: Sumantra
authors.initials: S
authors.lastname: Chattarji
authors.forename: David J A
authors.initials: DJ
authors.lastname: Wyllie
authors.forename: Peter C
authors.initials: PC
authors.lastname: Kind
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D018691:Excitatory Amino Acid Antagonists / Q000494:pharmacology / Q000627:therapeutic use; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000188:drug therapy* / Q000235:genetics*; D018755:GABA Agonists / Q000494:pharmacology / Q000627:therapeutic use; D006801:Humans; D010641:Phenotype; D015398:Signal Transduction / Q000187:drug effects
chemical_list: D018691:Excitatory Amino Acid Antagonists; D051860:Fragile X Messenger Ribonucleoprotein 1; D018755:GABA Agonists