Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum Disorder

Marques, Ana; Martiniano, Hugo; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, Luísa; Vicente, Astrid

http://hdl.handle.net/10400.18/5966

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Introduction: Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with an unclear etiology. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for other regulatory mechanisms is likely. The nonsense-mediated decay (NMD) pathway controls mRNA quality and plays an important role in the regulation of the transcriptome. Mutations in genes involved in the NMD pathway have been linked to neurodevelopmental disorders, with intriguing evidence for an involvement of mutations in the UPF3B gene, a core component of the NMD pathway, in ASD.