Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 470, Issue 7, Pages 995-1016Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00424-018-2136-x
Keywords
Cancer; Neurodegenerative diseases; Cardiovascular disease; Metabolic disease; Mitochondria; Splicing factor; Intron; Exon skipping
Categories
Funding
- Priority Research Centers Program through the National Research Foundation of Korea (NRF) - Ministry of Education, Science, and Technology [2010-0020224, 2015R1A2A1A13001900, 2015R1D1A1A01057937]
- Basic Science Research Program through the National Research Foundation of Korea (NRF) - Ministry of Education, Science, and Technology [2010-0020224, 2015R1A2A1A13001900, 2015R1D1A1A01057937]
- National Research Foundation of Korea [2015R1D1A1A01057937, 2015R1A2A1A13001900] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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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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