The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

摘要

Idiopathic dilated cardiomyopathy is characterized primarily by left ventricular dilatation and impaired function. More than 25 genes have been shown to be associated with IDC1'2; however, with the exception of the Lamin A/C (LMNA) gene, each of these genes accounts for <2% of cases. Idiopathic dilated cardiomyopathy caused by LMNA mutations is often accompanied by conduction disorders, cardiac arrhythmias, and/or discrete muscle disorders.3'4 The LMNA gene consists of 12 exons and encodes the intermediate filament proteins Lamin A and C, which maintain the structural integrity of the nuclear envelope and organize chromatin within the nucleus, thereby influencing DNA transcription.5"7