Role Of Lmna In Causing Heart Disease

Mutations within the LMNA gene, encoding the nuclear proteins lamin A and lamin C, have been described to cause diseases involving skeletal as well as cardiac muscle. Among them are dilated cardiomyopathy, atrioventricular conduction disease, Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy, and familial partial lipodystrophy. So far, we identified 12 disease-causing LMNA mutations in 18 different families by direct sequencing of the LMNA gene. Different mutations within the same gene result in the affection of different muscle types (skeletal or cardiac) and also in variable cardiac symptoms. In conclusion, the genotype / phenotype relation demonstrates that both, the kind of mutation and its localization within the LMNA gene play an important role in the pathogenesis of the phenotype.