Phospholamban Gene Mutations Are Not Associated with Hypertrophic Cardiomyopathy in a Northern Greek Population

Abstract

Hypertrophic cardiomyopathy (HCM) is a genetically transmitted cardiac disease characterized by unexplained myocardial hypertrophy and diverse clinical spectrum. Currently, more than 250 HCM-related mutations in 10 genes encoding contractile sarcomeric proteins have been identified. Phospholamban (PLN) is a modest modulator of intracellular Ca2+ homeostasis and may be a candidate gene responsible for cardiomyopathy. In this study 53 consecutive patients with HCM, coming from Northern Greece, were screened for mutations of PLN gene. The patients were evaluated by clinical history, physical examination, electrocardiogram and echocardiography. All PCR products were analyzed for mutation by both restriction analysis and sequencing. The systematic mutation screening did not reveal any mutation in exons 1 and 2 or in the promoter region of phospholamban gene. Additionally, no polymorphisms were detected in all patients. Therefore, PLN gene mutations were not found to be associated with HCM in a Northern Greece population.

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

“…These results are summarized in Table 2. Four studies which genotyped small HCM cohorts of Japanese 22 , Spanish 21 , Northern Greek 27 , and European Individuals (Swiss and Germany) 28 did not identify coding region mutations in PLN . Three putative mutations, not found in healthy individuals, were identified in the promoter region of PLN including the previously mentioned 1/87 Japanese case (A>G-77) 22 , 1/101 Spanish case (C>G −42) 21 , and 1/252 Australian case (L39X) 8 .…”