Biochemical Genetics

, Volume 43, Issue 11–12, pp 637–642

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

  • Theodora Kalemi
  • Georgios Efthimiadis
  • Dimitrios Zioutas
  • Alexandros Lambropoulos
  • Anastasia Mitakidou
  • Georgios Giannakoulas
  • Vassilios Vassilikos
  • Haralambos Karvounis
  • Alexandros Kotsis
  • Georgios Parharidis
  • Georgios Louridas
Note

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.

Keywords

phospholamban gene hypertrophic cardiomyopathy mutation DNA-sequencing 

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Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Theodora Kalemi
    • 1
  • Georgios Efthimiadis
    • 2
  • Dimitrios Zioutas
    • 2
  • Alexandros Lambropoulos
    • 1
  • Anastasia Mitakidou
    • 2
  • Georgios Giannakoulas
    • 2
  • Vassilios Vassilikos
    • 2
  • Haralambos Karvounis
    • 2
  • Alexandros Kotsis
    • 1
  • Georgios Parharidis
    • 2
  • Georgios Louridas
    • 2
  1. 1.Department of Biology and GeneticsAristotle University of ThessalonikiThessalonikiGreece
  2. 2.First Department of CardiologyAristotle University of Thessaloniki AHEPA HospitalThessalonikiGreece

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