The Correlation Investigation Between Desmin Gene And Idiopathic Dilated Cardiomyopathy

objective Dilated cardiomyopathy(DCM) is the most frequent formof primary heart disease. Dilated cardiomyopathy is partly caused by amutation of some cytoskeletal or nuclear envelope proteins. It has been confirmed recently that a missense mutation (Ile451Met) of the geneencoding desmin, a cytoskeletal protein, can cause dilatedcardiomyopathy. The aim of our study was to screen whether the mutation of desmin is associated with the causation of Chinese idiopathic dilated cardiomyopathy population.Medthods Altogether 89 patients with dialted cardiomyopathy and 110 contral cases were included in the study. The exon 8 of the desmin gene was analysed by polymerase chain reaction(PCR), restriction enzyme digestion, PAG and sequencing for described mutation site (He451Met) .Results None of the 89 patients with DCM and 110 control casespresents a mutation (lle451Met) in desmin gene. A polymorphism^-* T) in the exon 8 was found.Conclusion In Chinese idiopathic dilated cardiomyopathy patients, no mutation in gene encoding for desmin responsible for the cause of DCM was found.