Chapter 8 - Regulation of splicing in cardiovascular disease

Abstract

Alternative splicing is a highly regulated process that enables a single gene to code for multiple isoforms of a protein. Misregulation of this crucial process can result in a wide range of human diseases, including cardiovascular disease, by the modification or loss of an important physiological protein function. In the heart, the importance of alternative splicing in posttranscriptional gene regulation is becoming increasingly evident. Here we give a brief overview of the splicing process, discuss the various mechanisms by which RNA splicing is regulated, and review the current knowledge of alternative splicing in the heart, in particular, factors controlling heart-specific alternative splicing and the role of alternative splicing in cardiovascular disease.