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

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

doi:10.1042/BST20150168

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 journal › Article › peer-review

12 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1259-1265
Number of pages	7
Journal	Biochemical Society Transactions
Volume	43
Issue number	6
Early online date	27 Nov 2015
DOIs	https://doi.org/10.1042/BST20150168
Publication status	Published - 1 Dec 2015

Bibliographical note

Acknowledgments
We gratefully acknowledge support from Medical Research Scotland (grant PhD-654-2012) and Dundee Cell Products Ltd. FS was supported by the Fraserburgh Moonlight Prowl.

© 2015 Authors; published by Portland Press Limited.

Keywords

mRNA metabolism
protein synthesis
neurodevelopmental disorders

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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AU - Miedzybrodzka, Zosia

AU - Müller, Berndt

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

Abstract

Bibliographical note

Keywords

UN SDGs

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