Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

Scientific Reports

Volumn 6, Issue , 2016, Pages

  Fish, Maryam ^a   Shaboodien, Gasnat ^a   Kraus, Sarah ^a   Sliwa, Karen ^a   Seidman, Christine E ^b,c   Burke, Michael A ^b,c   Crotti, Lia ^d,e   Schwartz, Peter J ^a,d,e   Mayosi, Bongani M ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; PHOSPHOLAMBAN;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HAPLOTYPE; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PERINATAL PERIOD; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; PROCEDURES; SEQUENCE HOMOLOGY; SOUTH AFRICA;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; PERIPARTUM PERIOD; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; SEQUENCE HOMOLOGY, AMINO ACID; SOUTH AFRICA;

EID: 84959449544     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep22235     Document Type: Article

References (37)

1. Elliott, P. et al. Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases. Eur Heart J 29, 270-276 (2008).
2. Damasceno, A. et al. The causes, treatment, and outcome of acute heart failure in 1006 Africans from 9 countries: Results of the subsaharan africa survey of heart failure. Arch Int Med 172, 1386-1394, doi: 10.1001/archinternmed.2012.3310 (2012).
3. Sliwa, K., Damasceno, A. & Mayosi, B. M. Epidemiology and etiology of cardiomyopathy in Africa. Circulation 112, 3577-3583, doi: 10.1161/CIRCULATIONAHA.105.542894 (2005).
4. Wexler, R. K., Elton, T., Pleister, A. & Feldman, D. Cardiomyopathy: an overview. Am Fam Physician 79, 778-784 (2009).
5. Watkins, H., Ashrafian, H. & Redwood, C. Inherited Cardiomyopathies. N Engl J Med 364, 1643-1656, doi: 10.1056/NEJMra0902923 (2011).
6. Schmitt, J. P. et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299, 1410-1413, doi: 10.1126/science.1081578 (2003).
7. Haghighi, K. et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J Clin Invest 111, 869-876, doi: 10.1172/JCI17892 (2003).
8. Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. PNAS 103, 1388-1393, doi: 10.1073/pnas.0510519103 (2006).
9. Chiu, C. et al. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 43, 337-343, doi: 10.1016/j.yjmcc.2007.06.009 (2007).
10. van der Zwaag, P. A. et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 14, 1199-1207, doi: 10.1093/eurjhf/hfs119 (2012).
11. Sliwa, K. & Mayosi, B. M. Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa. Heart 99, 1317-1322, doi: 10.1136/heartjnl-2013-303592 (2013).
12. van Rijsingen, I. A. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet 7, 455-465, doi: 10.1161/CIRCGENETICS.113.000374 (2014).
13. van der Zwaag, P. A. et al. Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J 21, 286-293, doi: 10.1007/s12471-013-0401-3 (2013).
14. Watkins, D. A. et al. Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the Arrhythmogenic Right Ventricular Cardiomyopathy Registry of South Africa. Heart Rhythm 6, S10-S17 (2009).
15. Ntusi, N. B. A., Badri, M., Gumedze, F., Wonkam, A. & Mayosi, B. M. Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: A comparative study of 120 cases followed up over 14 years. S Afr Med J 101, 399-404 (2011).
16. Ntusi, N. A. B., Shaboodien, G., Badri, M., Gumedze, F. & Mayosi, B. M. Clinical features, spectrum of causal genetic mutations, and outcome of hypertrophic cardiomyopathy in South Africans. Cardiovasc J Afr in press (2015).
17. Ntusi, N. B., Badri, M., Gumedze, F., Sliwa, K. & Mayosi, B. M. Pregnancy-Associated Heart Failure: A Comparison of Clinical Presentation and Outcome between Hypertensive Heart Failure of Pregnancy and Idiopathic Peripartum Cardiomyopathy. PLoS One 10, e0133466, doi: 10.1371/journal.pone.0133466 (2015).
18. Truszkowska, G. T. et al. A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. BMC Med Genet 16, 21, doi: 10.1186/s12881-015-0167-0 (2015).
19. Ha, K. N. et al. Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. PNAS 108, 2735-2740, doi: 10.1073/pnas.1013987108 (2011).
20. Abrol, N., de Tombe, P. P. & Robia, S. L. Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. J Biol Chem 290, 7130-7140, doi: 10.1074/jbc.M114.630319 (2015).
21. Lopez-Ayala, J. M. et al. Phospholamban p.arg14del Mutation in a Spanish Family With Arrhythmogenic Cardiomyopathy: Evidence for a European Founder Mutation. Rev Españ Cardiol (Engl Ed) 68, 346-349 (2015).
22. van Spaendonck-Zwarts, K. Y. et al. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. Eur Heart J 35, 2165-2173, doi: 10.1093/eurheartj/ehu050 (2014).
23. Truszkowska, G. et al. A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. BMC Med Genet 16, 21 (2015).
24. Medeiros, A. et al. Mutations in the human phospholamban gene in patients with heart failure. Am Heart J 162, 1088-1095.e1081, doi: http://dx.doi.org/10.1016/j.ahj.2011.07.028 (2011).
25. DeWitt, M. M., MacLeod, H. M., Soliven, B. & McNally, E. M. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol 48, 1396-1398, doi: 10.1016/j.jacc.2006.07.016 (2006).
26. Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, 480-486, doi: http://dx.doi.org/10.1016/j.hrthm.2009.01.016 (2009).
27. Liu, G. S. et al. A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia. Cardiovascular research 107, 164-174, doi: 10.1093/cvr/cvv127 (2015).
28. Landstrom, A. P., Adekola, B. A., Bos, J. M., Ommen, S. R. & Ackerman, M. J. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J 161, 165-171, doi: 10.1016/j.ahj.2010.08.001 (2011).
29. Minamisawa, S. et al. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun 304, 1-4 (2003).
30. Medin, M. et al. Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN - 42 C > G mutation. Eur J Heart Fail 9, 37-43, doi: 10.1016/j.ejheart.2006.04.007 (2007).
31. Chiu, C. et al. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 43, 337-343, doi: http://dx.doi.org/10.1016/j.yjmcc.2007.06.009 (2007).
32. Medin, M. et al. Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN-42 C > G mutation. Eur J Heart Fail 9, 37-43, doi: 10.1016/j.ejheart.2006.04.007 (2007).
33. Marcus, F. I. et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 121, 1533-1541, doi: 10.1161/circulationaha.108.840827 (2010).
34. Liu, Y.-P. et al. Diagnostic accuracy of high resolution melting analysis for detection of KRAS mutations: a systematic review and meta-analysis. Sci Rep 4, 7521, doi: 10.1038/srep07521 (2014).
35. Ceholski, D. K., Trieber, C. A. & Young, H. S. Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. J Biol Chem 287, 16521-16529, doi: 10.1074/jbc.M112.360859 (2012).
36. Ceholski, D. K., Trieber, C. A., Holmes, C. F. & Young, H. S. Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. J Biol Chem 287, 26596-26605, doi: 10.1074/jbc.M112.382713 (2012).
37. Karakikes, I. et al. Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun 6, doi: 10.1038/ncomms7955 (2015).