title: Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders.
abstract: Brain development is a tightly controlled process that depends upon differentiation and function of neurons to allow for the formation of functional neural networks. Mutation of genes encoding structural proteins is well recognized as causal for neurodevelopmental disorders (NDDs). Recent studies have shown that aberrant gene expression can also lead to disorders of neural development. Here we summarize recent evidence implicating in the aetiology of NDDs mutation of factors acting at the level of mRNA splicing, mRNA nuclear export, translation and mRNA degradation. This highlights the importance of these fundamental processes for human health and affords new strategies and targets for therapeutic intervention.
authors.affiliation: School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, U.K.
authors.forename: Francesca
authors.initials: F
authors.lastname: Sartor
authors.affiliation: School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, U.K.
authors.forename: Jihan
authors.initials: J
authors.lastname: Anderson
authors.affiliation: School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, U.K.
authors.forename: Colin
authors.initials: C
authors.lastname: McCaig
authors.affiliation: Medical Genetics, Polwarth Building, Foresterhill, Aberdeen AB25 2ZD, Scotland, U.K.
authors.forename: Zosia
authors.initials: Z
authors.lastname: Miedzybrodzka
authors.affiliation: School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, U.K. b.mueller@abdn.ac.uk.
authors.forename: Berndt
authors.initials: B
authors.lastname: Müller
mesh_terms: D021581:Active Transport, Cell Nucleus / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D009154:Mutation; D065886:Neurodevelopmental Disorders / Q000235:genetics* / Q000378:metabolism; D014176:Protein Biosynthesis / Q000235:genetics*; D020871:RNA Stability / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction / Q000235:genetics
chemical_list: D012333:RNA, Messenger
keywords: autism; intellectual disability; messenger ribonucleic acid (mRNA) export; nonsense-mediated messenger ribonucleic acid (mRNA) decay; splicing; translation initiation