Abstract
The human genome is contained within the nucleus and is separated from the cytoplasm by the nuclear envelope. Mutations in the nuclear envelope proteins emerin and lamin A cause a number of diseases including premature aging syndromes, muscular dystrophy, and cardiomyopathy. Emerin and lamin A are implicated in regulating muscle- and heart-specific gene expression and nuclear architecture. For example, lamin A regulates the expression and localization of gap junction and intercalated disc components. Additionally, emerin and lamin A are also required to maintain nuclear envelope integrity. Demonstrating the importance of maintaining nuclear integrity in heart disease, atrioventricular node cells lacking lamin A exhibit increased nuclear deformation and apoptosis. This review highlights the present understanding of lamin A and emerin function in regulating nuclear architecture, gene expression, and cell signaling and discusses putative mechanisms for how specific mutations in lamin A and emerin cause cardiac-or muscle-specific disease.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 16-23 |
| Number of pages | 8 |
| Journal | Circulation research |
| Volume | 103 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jul 3 2008 |
| Externally published | Yes |
ASJC Scopus subject areas
- Physiology
- Cardiology and Cardiovascular Medicine
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