Abstract
Junctophilin-2 (JPH2) is a structural calcium (Ca2+) handling protein, which approximates the cardiomyocyte transverse tubules (TTs) to the sarcoplasmic reticulum. This facilitates communication of the voltage-gated Ca2+ channel and the ryanodine receptor RyR2. A human patient with hypertrophic cardiomyopathy was positive for a JPH2 mutation substituting alanine-405—located within the alpha helix domain—with a serine (A405S). Using a novel mouse echocardiography plane, we found that mice bearing this JPH2 mutation developed increased subvalvular septal thickness. Cardiomyocytes from the septa of these mice displayed irregular TTs and abnormal Ca2+ handling including increased SERCA activity.
Original language | English (US) |
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Pages (from-to) | 56-67 |
Number of pages | 12 |
Journal | JACC: Basic to Translational Science |
Volume | 2 |
Issue number | 1 |
DOIs | |
State | Published - 2017 |
Keywords
- calcium
- hypertrophic cardiomyopathy
- junctophilin-2
- magnetic resonance imaging
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine