Junctophilins (JPs) emerge to play key role in human pathophysiology. This family includes four subtypes (JP1-4), which are differentially detected in excitable cells. Previous work demonstrated the knockout of JPs that seriously damage physiological functions in skeletal muscle, cardiac, and neurons. Here, we summarize latest papers on the essential function of JPs in some Ca2+ -related diseases and neurological diseases, such as primary muscle disease, cardiomyopathies, Type 2 diabetes, gastrointestinal cancer, Huntington's disease-like 2, and Charcot-Marie-Tooth disease. Growing evidence suggests that targeting JPs might be a promising therapeutic approach to achieve better clinical efficacy in Ca 2+ -related diseases and neurological diseases.
Keywords: Huntington’s disease-like 2; calcium; cardiomyopathy; gastrointestinal cancer; junctophilin.
© 2019 Wiley Periodicals, Inc.