Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders

Francesca Sartor, Jihan Anderson, Colin McCaig, Zosia Miedzybrodzka, Berndt Müller

Research output: Contribution to journalArticle

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1259-1265
Number of pages7
JournalBiochemical Society Transactions
Issue number6
Early online date27 Nov 2015
Publication statusPublished - 1 Dec 2015



  • mRNA metabolism
  • protein synthesis
  • neurodevelopmental disorders

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