open access

Vol 69, No 2 (2011)
Original articles
Published online: 2011-02-17
Submitted: 2012-12-28
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Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland

Paweł Petkow-Dimitrow, Beata Kieć-Wilk, Małgorzata Kwaśniak, Magdalena Mikołajczyk, Aldona Dembińska-Kieć
Kardiol Pol 2011;69(2):134-137.

open access

Vol 69, No 2 (2011)
Original articles
Published online: 2011-02-17
Submitted: 2012-12-28

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.
Aim: 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.
Kardiol Pol 2011; 69, 2: 134-137

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.
Aim: 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.
Kardiol Pol 2011; 69, 2: 134-137
Get Citation

Keywords

hypertrophic cardiomyopathy; phospholamban

About this article
Title

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 69, No 2 (2011)

Pages

134-137

Published online

2011-02-17

Bibliographic record

Kardiol Pol 2011;69(2):134-137.

Keywords

hypertrophic cardiomyopathy
phospholamban

Authors

Paweł Petkow-Dimitrow
Beata Kieć-Wilk
Małgorzata Kwaśniak
Magdalena Mikołajczyk
Aldona Dembińska-Kieć

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