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
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Wegener AD, Simmerman HK, Lindemann JP, Jones LR. Phospholamban phosphorylation in intact ventricles. Phosphorylation of serine 16 and threonine 17 in response to beta-adrenergic stimulation. J Biol Chem. 1989;264:11468–74.
Catalucci D, Latronico MV, Ceci M, Rusconi F, Young HS, Gallo P, et al. Akt increases sarcoplasmic reticulum Ca2+ cycling by direct phosphorylation of phospholamban at Thr17. J Biol Chem. 2009;284:28180–7.
Vafiadaki E, Papalouka V, Arvanitis DA, Kranias EG, Sanoudou D. The role of SERCA2a/PLN complex, Ca(2+) homeostasis, and anti-apoptotic proteins in determining cell fate. Pflugers Archiv Eur J Physiol. 2009;457:687–700.
Medeiros A, Biagi DG, Sobreira TJ, de Oliveira PS, Negrao CE, Mansur AJ, et al. Mutations in the human phospholamban gene in patients with heart failure. Am Heart J. 2011;162:1088–95.
van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, 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. 2012;14:1199–207.
Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J. 2011;161:165–71.
Haghighi K, Kolokathis F, Pater L, Lynch RA, Asahi M, Gramolini AO, et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J Clin Invest. 2003;111:869–76.
Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron 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. 2008;29:270–6.
Kostrzewa G, Broda G, Konarzewska M, Krajewki P, Ploski R. Genetic polymorphism of human Y chromosome and risk factors for cardiovascular diseases: a study in WOBASZ cohort. PLoS One. 2013;8:e68155.
Ploski R, Pollak A, Muller S, Franaszczyk M, Michalak E, Kosinska J, et al. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res. 2014;114:e2–5.
Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. [http://evs.gs.washington.edu/EVS/]
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003;21:577–81.
Mahrholdt H, Wagner A, Judd RM, Sechtem U, Kim RJ. Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies. Eur Heart J. 2005;26:1461–74.
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, et al. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013;6:337–46.
Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science. 2003;299:1410–3.
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, et al. Desmin-related myopathy. Clin Genet. 2011;80:354–66.
Dash R, Frank KF, Carr AN, Moravec CS, Kranias EG. Gender influences on sarcoplasmic reticulum Ca2 + −handling in failing human myocardium. J Mol Cell Cardiol. 2001;33:1345–53.
Ceholski DK, Trieber CA, Young HS. Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. J Biol Chem. 2012;287:16521–9.
Ceholski DK, Trieber CA, Holmes CF, Young HS. Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. J Biol Chem. 2012;287:26596–605.
Ha KN, Masterson LR, Hou Z, Verardi R, Walsh N, Veglia G, et al. Lethal Arg9Cys phospholamban mutation hinders Ca2 + −ATPase regulation and phosphorylation by protein kinase A. Proc Natl Acad Sci U S A. 2011;108:2735–40.
Choudhary G, Dudley Jr SC. Heart failure, oxidative stress, and ion channel modulation. Congest Heart Fail. 2002;8:148–55.
Lee TM, Addonizio LJ, Chung WK. Dilated cardiomyopathy due to a phospholamban duplication. Cardiol Young. 2014;24:953–4.
Haghighi K, Chen G, Sato Y, Fan GC, He S, Kolokathis F, et al. A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. Hum Mutat. 2008;29:640–7.