The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments

Authors: Hagerman, Randi J.; Rivera, Susan M.; Hagerman, Paul J.

Source: Current Pediatric Reviews, Volume 4, Number 1, February 2008 , pp. 40-52(13)

Publisher: Bentham Science Publishers

Buy & download fulltext article:

Price: $62.88 plus tax (Refund Policy)

Abstract:

CGG-repeat expansion mutations of the fragile X mental retardation 1 (FMR1) gene are the leading known cause of autism and autism spectrum disorders (ASD). Full mutation expansions (>200 CGG repeats) of the gene are generally silenced, resulting in absence of the FMR1 protein and fragile X syndrome. By contrast, smaller expansions in the premutation range (55-200 CGG repeats) result in excess gene activity and RNA toxicity, which is responsible for the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), and likely additional cases of developmental delay and autism. Thus, the FMR1 gene is causative of a common (autism) phenotype via two entirely different pathogenic mechanisms, RNA toxicity and gene silencing. The study of this gene and its pathogenic mechanisms therefore represents a paradigm for understanding gene-brain relationships and the means by which diverse genetic mechanisms can give rise to a common behavioral phenotype.

Keywords: fragile X mental retardation 1 gene; Idiopathic Autism; methyl-CpG binding protein; Neuroimaging; CGG repeat

Document Type: Research article

DOI: http://dx.doi.org/10.2174/157339608783565770

Publication date: 2008-02-01

More about this publication?

Current Pediatric Reviews publishes frontier reviews on all the latest advances in pediatric medicine. The journal's aim is to publish the highest quality review articles dedicated to clinical research in the field. The journal is essential reading for all researchers and clinicians in pediatric medicine.