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lüll Emerin and the nuclear lamina in muscle and cardiac disease Holaska JMCirc Res 2008[Jul]; 103 (1): 16-23The 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.|*Genome, Human[MESH]|Aging, Premature/genetics/metabolism/pathology[MESH]|Animals[MESH]|Apoptosis/genetics[MESH]|Atrioventricular Node/metabolism/pathology[MESH]|Cardiomyopathies/genetics/*metabolism/pathology[MESH]|Gene Expression Regulation/genetics[MESH]|Humans[MESH]|Lamin Type A/genetics/*metabolism[MESH]|Membrane Proteins/genetics/*metabolism[MESH]|Muscular Dystrophies/genetics/metabolism/pathology[MESH]|Mutation[MESH]|Myocardium/*metabolism/pathology[MESH]|Nuclear Lamina/genetics/*metabolism/pathology[MESH]|Nuclear Proteins/genetics/*metabolism[MESH]|Organ Specificity/genetics[MESH]|Signal Transduction/genetics[MESH]|Syndrome[MESH] |