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Alternative splicing isoforms in health and disease

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Pflügers Archiv - European Journal of Physiology Aims and scope Submit manuscript

Abstract

Alternative splicing (AS) of protein-coding messenger RNAs is an essential regulatory mechanism in eukaryotic gene expression that controls the proper function of proteins. It is also implicated in the physiological regulation of mitochondria and various ion channels. Considering that mis-splicing can result in various human diseases by modifying or abrogating important physiological protein functions, a fine-tuned balance of AS is essential for human health. Accumulated data highlight the importance of alternatively spliced isoforms in various diseases, including neurodegenerative disorders, cancer, immune and infectious diseases, cardiovascular diseases, and metabolic conditions. However, basic understanding of disease mechanisms and development of clinical applications still require the integration and interpretation of physiological roles of AS. This review discusses the roles of AS in health and various diseases, while highlighting potential AS-targeting therapeutic applications.

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Funding

This study was supported by grants from the Priority Research Centers Program and Basic Science Research Program through the National Research Foundation of Korea (NRF), funded by the Ministry of Education, Science, and Technology (2010-0020224, 2015R1A2A1A13001900, and 2015R1D1A1A01057937).

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Authors and Affiliations

  1. National Research Laboratory for Mitochondrial Signaling, Department of Physiology, Department of Health Sciences and Technology, BK21 Plus Project Team, Cardiovascular and Metabolic Disease Center, Inje University College of Medicine, Bokji-ro 75, Busanjin-gu, Busan, 47392, South Korea

    Hyoung Kyu Kim, Kyung Soo Ko, Byoung Doo Rhee & Jin Han

  2. Department of Integrated Biomedical Science, Inje University College of Medicine, Busan, South Korea

    Hyoung Kyu Kim

  3. School of medicine, University of Copenhagen, Copenhagen, Denmark

    Michael Huy Cuong Pham

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  1. Hyoung Kyu Kim
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  2. Michael Huy Cuong Pham
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  5. Jin Han
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Correspondence to Jin Han.

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Kim, H.K., Pham, M.H.C., Ko, K.S. et al. Alternative splicing isoforms in health and disease. Pflugers Arch - Eur J Physiol 470, 995–1016 (2018). https://doi.org/10.1007/s00424-018-2136-x

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