title: Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) is a genetic disease. The role of phospholamban (PLN) gene mutations is the development of HCM has not been established.
  
  
  OBJECTIVE
  To screen for PLN gene mutations in a group of HCM patients from the southern Poland.
  
  
  METHODS
  We included 50 consecutive patients (31 males, mean age 42 ± 14 years) diagnosed with HCM on the basis of typical clinical, echocardiographic, and haemodynamic features. The control group consisted of 50 (sex-, age-matched) healthy subjects with normal echocardiograms.
  
  
  RESULTS
  The genetic analysis was focused on R9C mutation with the ability to block PLN phosphorylation leading to chronic inhibition of SERCA2a activity. Another analysed mutation causing the alteration of PLN level in cells was related to the substitution of a leucine residue at position 39 with a premature stop codon (L39X). The sequence analysis of selected coding regions of the PLN gene did not show the presence of mutations in either the patients or the control subpopulations.
  
  
  CONCLUSIONS
  Systematic mutation screening did not reveal any mutation in the selected regions of the PLN gene. Additionally, no polymorphisms were detected in any patients. Therefore, PLN gene mutations were not found to be associated with HCM in the study group.
authors.affiliation: 2nd Department of Cardiology, Collegium Medicum, Jagiellonian University, Krakow, Poland. dimitrow@mp.pl
authors.forename: Paweł
authors.initials: P
authors.lastname: Petkow-Dimitrow
authors.forename: Beata
authors.initials: B
authors.lastname: Kieć-Wilk
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Kwaśniak
authors.forename: Magdalena
authors.initials: M
authors.lastname: Mikołajczyk
authors.forename: Aldona
authors.initials: A
authors.lastname: Dembińska-Kieć
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011044:Poland; D000099211:Phospholamban
chemical_list: D002135:Calcium-Binding Proteins; D000099211:Phospholamban