RNA splicing: disease and therapy
RNA splicing: disease and therapy
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins. Regulation of this process is even more complicated, relying on loosely defined cis-acting regulatory sequence elements, trans-acting protein factors and cellular responses to varying environmental conditions. Many different human diseases can be caused by errors in RNA splicing or its regulation. Targeting aberrant RNA provides an opportunity to correct faulty splicing and potentially treat numerous genetic disorders. Antisense oligonucleotide therapies show particular promise in this area and, if coupled with improved delivery strategies, could open the door to a multitude of novel personalized therapies.
151-164
Douglas, Andrew G.L.
2c789ec4-a222-43bc-a040-522ca64fea42
Wood, Matthew J.A.
2dd0c89e-a284-4012-a125-72b883df6af8
May 2011
Douglas, Andrew G.L.
2c789ec4-a222-43bc-a040-522ca64fea42
Wood, Matthew J.A.
2dd0c89e-a284-4012-a125-72b883df6af8
Abstract
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins. Regulation of this process is even more complicated, relying on loosely defined cis-acting regulatory sequence elements, trans-acting protein factors and cellular responses to varying environmental conditions. Many different human diseases can be caused by errors in RNA splicing or its regulation. Targeting aberrant RNA provides an opportunity to correct faulty splicing and potentially treat numerous genetic disorders. Antisense oligonucleotide therapies show particular promise in this area and, if coupled with improved delivery strategies, could open the door to a multitude of novel personalized therapies.
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RNA splicing disease and therapy_accepted.pdf
- Accepted Manuscript
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Published date: May 2011
Organisations:
Human Development & Health
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Local EPrints ID: 396025
URI: http://eprints.soton.ac.uk/id/eprint/396025
ISSN: 2041-2649
PURE UUID: 584df8d7-6fed-4933-bca9-1ce5ecbf92f6
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Date deposited: 08 Jul 2016 15:52
Last modified: 15 Mar 2024 03:36
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Author:
Matthew J.A. Wood
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