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ISSN: 2472-128X

Journal of Clinical & Medical Genomics
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Review Article

Making Use of Aberrant and Nonsense: Aberrant Splicing and Nonsense-Mediated Decay as Targets for Personalized Medicine

Jiuyong Xie*

Department of Physiology, Biochemistry and Medical Genetics, University of Manitoba, 745 Bannatyne Ave., Winnipeg, MB R3E 0J9, Canada

*Corresponding Author:
Jiuyong Xie
Faculty of Medicine, Department of Physiology
Biochemistry and Medical Genetics
University of Manitoba
745 Bannatyne Ave., Winnipeg
MB R3E 0J9, Canada
Tel: 1-204 975 7774
Fax: 1-204 789 393
E-mail: [email protected]

Received date: June 20, 2013; Accepted date: July 15, 2013; Published date: July 22, 2013

Citation: Xie J (2013) Making Use of Aberrant and Nonsense: Aberrant Splicing and Nonsense-Mediated Decay as Targets for Personalized Medicine. Int J Genomic Med 1:105. doi: 10.4172/2332-0672.1000105

Copyright: © 2013 Xie J. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


It is estimated that one-third of disease-causing mutations may induce aberrant splicing of pre-messenger RNA transcripts and a partially overlapping third to premature stop codons (PTC) and nonsense-mediated mRNA decay (NMD). In some diseases, the estimate even goes up to 50% and >70%, respectively. These highly prevalent effects of different mutations on mRNA processing have prompted much effort for the identification of compounds towards the therapy of a substantial number of diseases with mutation-specific, personalized medicine. Here I review the widespread occurrence of aberrant splicing, NMD and their association in human genetic diseases, and discuss the rationales underlying the corresponding therapeutic strategies and challenges.

The ability to sequence and analyze the human genome and transcriptomes of various sources at speeds unimaginable more than 20 years ago has had huge impacts on not only basic biological research but also the development of novel therapeutic strategies for human genetic diseases. Particularly this ability allows the screening of mutations in individuals at a genome/transcriptome scale for the design of different therapeutic strategies for mutation-specific, personalized medicine based on how the mutations take their toll.

For the genetic information-based disease therapy, RNA has also been targeted besides DNA and protein, with an accelerating speed of research in recent years. This development has mainly benefited from our understanding of different aspects of RNA processing and appreciation of their prevalence, such as the widespread presence of alternative pre-mRNA splicing in human transcriptomes, mRNA quality control by nonsense-mediated decay (NMD), as well as microRNA, long noncoding RNA and other non-coding RNAs. Their misregulation due to mutations has been linked to or associated with the development of human genetic diseases. Here I will discuss the therapeutic potential of targeting aberrant splicing and NMD, two widespread and related effects of a large number of genetic mutations that cause human diseases.


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