Peer-Reviewed Journal Details
Mandatory Fields
Gallagher, L,Shen, SB,Anney, R,Leboyer, M,Chaste, P
2015
November
Autism Spectrum Disorders: Phenotypes, Mechanisms And Treatments
Molecular Pathways in Autistic Spectrum Disorders
Published
()
Optional Fields
FRAGILE-X-SYNDROME MENTAL-RETARDATION PROTEIN DE-NOVO MUTATIONS RETT-SYNDROME MOUSE MODEL SYNAPTIC FUNCTION MICE LACKING GLUTAMATERGIC SYNAPSES GABA(A) RECEPTOR MUTANT MICE
180
97
112
Major advances in neuroscience have highlighted previously elusive molecular pathways for autistic spectrum disorders (ASD) which are essential to the identification of molecular targets for drug discovery. The evidence of the heritability of ASD is now well established, and the last decade brought an exponential rate of discovery in ASD genetics. In particular rare chromosomal structural rearrangements and rare sequence variants have been implicated, with common genetic variation conferring a modest risk. Rare genetic mutations of major effect offer direct targets for the study of underlying molecular mechanisms. Systems biology approaches such as data mining of large genetic data sets in ASD are also used to identify related functional pathways. A greater understanding of the neural mechanisms underpinning ASD is required to determine disrupted developmental processes and how and when pharmacological and behavioural interventions are best initiated. Identification of the disease mechanisms associated with monogenetic neurodevelopmental disorders such as Rett syndrome and fragile X syndrome have led to new molecular targets and potential treatments which have provided optimism for researchers and the ASD community. Taken together, rare and common genetic variations in ASD implicate critical pathways involving chromatin remodelling, synaptogenesis, synapse specialization and intracellular signalling mechanisms. The following chapter will synthesize evidence from a range of sources to illustrate the molecular pathways that appear to be most implicated in ASD, providing potential targets for new drug exploitation. (C) 2015 S. Karger AG, Basel
10.1159/000363593
Grant Details
Publication Themes