Alternative splicing isoforms in health and disease

  • Hyoung Kyu Kim
  • Michael Huy Cuong Pham
  • Kyung Soo Ko
  • Byoung Doo Rhee
  • Jin Han
Molecular and cellular mechanisms of disease
Part of the following topical collections:
  1. Molecular and cellular mechanisms of disease


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.


Cancer Neurodegenerative diseases Cardiovascular disease Metabolic disease Mitochondria Splicing factor Intron Exon skipping 


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Hyoung Kyu Kim
    • 1
    • 2
  • Michael Huy Cuong Pham
    • 3
  • Kyung Soo Ko
    • 1
  • Byoung Doo Rhee
    • 1
  • Jin Han
    • 1
  1. 1.National Research Laboratory for Mitochondrial Signaling, Department of Physiology, Department of Health Sciences and Technology, BK21 Plus Project Team, Cardiovascular and Metabolic Disease CenterInje University College of MedicineBusanSouth Korea
  2. 2.Department of Integrated Biomedical ScienceInje University College of MedicineBusanSouth Korea
  3. 3.School of medicineUniversity of CopenhagenCopenhagenDenmark

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