Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population.
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.
Kalemi
Theodora
T
Department of Biology and Genetics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Efthimiadis
Georgios
G
Zioutas
Dimitrios
D
Lambropoulos
Alexandros
A
Mitakidou
Anastasia
A
Giannakoulas
Georgios
G
Vassilikos
Vassilios
V
Karvounis
Haralambos
H
Kotsis
Alexandros
A
Parharidis
Georgios
G
Louridas
Georgios
G
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
D002135:Calcium-Binding Proteins; D000099211:Phospholamban