title: 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.
authors.affiliation: Department of Biology and Genetics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Theodora
authors.initials: T
authors.lastname: Kalemi
authors.forename: Georgios
authors.initials: G
authors.lastname: Efthimiadis
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Zioutas
authors.forename: Alexandros
authors.initials: A
authors.lastname: Lambropoulos
authors.forename: Anastasia
authors.initials: A
authors.lastname: Mitakidou
authors.forename: Georgios
authors.initials: G
authors.lastname: Giannakoulas
authors.forename: Vassilios
authors.initials: V
authors.lastname: Vassilikos
authors.forename: Haralambos
authors.initials: H
authors.lastname: Karvounis
authors.forename: Alexandros
authors.initials: A
authors.lastname: Kotsis
authors.forename: Georgios
authors.initials: G
authors.lastname: Parharidis
authors.forename: Georgios
authors.initials: G
authors.lastname: Louridas
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000502:physiology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005820:Genetic Testing; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D000099211:Phospholamban
chemical_list: D002135:Calcium-Binding Proteins; D000099211:Phospholamban