[Association between mutation of phospholamban gene and dilated cardiomyopathy].
Phospholamban (PLB) is a prominent regulator of myocardial contractility and a reversible inhibitor of the cardiac sarcoplasmic reticulum Ca2+ ATPase activity. In normal cardiac muscles, phospholamban can be phosphorylated at distinct sites by various protein kinases and release its inhibition to sarcoplasmic reticulum Ca2+ ATPase. The studies of pedigrees have shown dilated cardiomyopathy (DCM) is related with mutation of PLB. The aim of present study is to investigate the relationship between mutation of PLB gene and DCM. Sixty patients with idiotic DCM were enrolled in present study. The clinical data were collected, including clinical symptoms, ECG and echocardiography. Peripheral blood samples of all these subjects were collected to extract genome DNA. The fragments of PLB gene were amplified by PCR and PCR fragment sequencing was performed to study weather mutation of phospholamban gene exists. phospholamban gene did not show any mutation in these patients. Most Chinese DCM patients may not be related with mutation of PLB gene.
Zhao
Chun-Xia
CX
Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430 030, China. zhaocx2001@yahoo.com.cn
Cui
Ying-Hua
YH
Zhu
Zhi-Hui
ZH
Wang
Dao-Wen
DW
D000293:Adolescent; D000328:Adult; D000368:Aged; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA; D000099211:Phospholamban
D002135:Calcium-Binding Proteins; D004247:DNA; D000099211:Phospholamban