Disease-modifying mutations in familial hypertrophic cardiomyopathy: Complexity from simplicity

Circulation

Volumn 117, Issue 14, 2008, Pages 1775-1777

  Hilfiker Kleiner, Denise ^a   Knöll, Ralph ^b  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

Cardiomyopathy; Editorials; Genetics

Indexed keywords

BRAIN NATRIURETIC PEPTIDE; CALCIUM; CALCIUM CHANNEL L TYPE; MESSENGER RNA; MYOSIN HEAVY CHAIN BETA; PHOSPHOLAMBAN; PROTEIN C; RAS PROTEIN; RYANODINE RECEPTOR 2; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; STAT3 PROTEIN; TROPONIN I;

CALCIUM METABOLISM; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; DOWN REGULATION; EDITORIAL; EXPERIMENTAL MODEL; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FAMILY STUDY; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HEART MUSCLE FIBROSIS; HUMAN; MISSENSE MUTATION; MUTANT; MUTATION; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SARCOMERE; T LYMPHOCYTE ACTIVATION; UPREGULATION;

ANIMALS; CALCIUM SIGNALING; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DISEASE MODELS, ANIMAL; FIBROSIS; HETEROZYGOTE; HUMANS; MICE; MICE, MUTANT STRAINS; MUTATION; MUTATION, MISSENSE; RENIN-ANGIOTENSIN SYSTEM; SARCOMERES; SIGNAL TRANSDUCTION; STAT3 TRANSCRIPTION FACTOR; TACHYCARDIA, VENTRICULAR; TROPONIN I; VENTRICULAR MYOSINS;

EID: 41949084114     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.108.767657     Document Type: Editorial

References (21)

1. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005;6:185-216.
2. Braunwald E, Zipes D, Libby P. Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. Philadelphia, Pa: Saunders; 2007.
3. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002;287:1308-1320.
4. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet. 2007;39:1013-1017.
5. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38:331-336.
6. Tsoutsman T, Kelly M, Ng DCH, Tan J-E, Tu E, Lam L, Bogoyevitch M, Seidman CE, Seidman JG, Semsarian C. Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy. Circulation. 2008;117:1820-1831.
7. Frazier A, Judge DP, Schulman SP, Johnson N, Holmes KW, Murphy AM. Familial hypertrophic cardiomyopathy associated with cardiac betamyosin heavy chain and troponin I mutations. Pediatr Cardiol. January 4, 2008. DOI: 10.1007/s00246-007-9177-9. Available at: http://www.springerlink.com/content/ 5640703k1322w642/.
8. Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Commun. 2003;309:391-398.
9. Alpert NR, Mohiddin SA, Tripodi D, Jacobson-Hatzell J, Vaughn-Whitley K, Brosseau C, Warshaw DM, Fananapazir L. Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations. Am J Physiol Heart Circ Physiol. 2005;288:H1097-H1102.
10. Lehnart SE, Wehrens XH, Marks AR. Defective ryanodine receptor interdomain interactions may contribute to intracellular Ca2+ leak: a novel therapeutic target in heart failure. Circulation. 2005;111:3342-3346.
11. Kogler H, Schott P, Toischer K, Milting H, Van PN, Kohlhaas M, Grebe C, Kassner A, Domeier E, Teucher N, Seidler T, Knoll R, Maier LS, El-Banayosy A, Korfer R, Hasenfuss G. Relevance of brain natriuretic peptide in preload-dependent regulation of cardiac sarcoplasmic reticulum Ca2+ ATPase expression. Circulation. 2006;113:2724-2732.
12. Funamoto M, Fujio Y, Kunisada K, Negoro S, Tone E, Osugi T, Hirota H, Izumi M, Yoshizaki K, Walsh K, Kishimoto T, Yamauchi-Takihara K. Signal transducer and activator of transcription 3 is required for glycoprotein 130-mediated induction of vascular endothelial growth factor in cardiac myocytes. J Biol Chem. 2000;275:10561-10566.
13. Hattori R, Maulik N, Otani H, Zhu L, Cordis G, Engelman RM, Siddiqui MA, Das DK. Role of STAT3 in ischemic preconditioning. J Mol Cell Cardiol. 2001;33:1929-1936.
14. Hilfiker-Kleiner D, Hilfiker A, Fuchs M, Kaminski K, Schaefer A, Schieffer B, Hillmer A, Schmiedl A, Ding Z, Podewski E, Poli V, Schneider MD, Schulz R, Park JK, Wollert KC, Drexler H. Signal transducer and activator of transcription 3 is required for myocardial capillary growth, control of interstitial matrix deposition, and heart protection from ischemic injury. Circ Res. 2004;95:187-195.
15. Aaronson DS, Horvath CM. A road map for those who know JAK-STAT. Science. 2002;296:1653-1655.
16. Fischer P, Hilfiker-Kleiner D. Survival pathways in hypertrophy and heart failure: the gp130-STAT3 axis. Basic Res Cardiol. 2007;102:393-411.
17. Heinrich PC, Behrmann I, Muller-Newen G, Schaper F, Graeve L. Interleukin-6-type cytokine signalling through the gp130/Jak/STAT pathway. Biochem J. 1998;334(pt 2):297-314.
18. Mascareno E, Beckles DL, Siddiqui MA. Janus kinase-2 signaling mediates apoptosis in rat cardiomyocytes. Vascul Pharmacol. 2005;43:327-335.
19. Tsai CT, Lai LP, Kuo KT, Hwang JJ, Hsieh CS, Hsu KL, Tseng CD, Tseng YZ, Chiang FT, Lin JL. Angiotensin II activates signal transducer and activators of transcription 3 via Rac1 in atrial myocytes and fibroblasts: implication for the therapeutic effect of statin in atrial structural remodeling. Circulation. 2008;117:344-355.
20. Mascareno E, Dhar M, Siddiqui MA. Signal transduction and activator of transcription (STAT) protein-dependent activation of angiotensinogen promoter: a cellular signal for hypertrophy in cardiac muscle. Proc Natl Acad Sci U S A. 1998;95:5590-5594.
21. El-Adawi H, Deng L, Tramontano A, Smith S, Mascareno E, Ganguly K, Castillo R, El-Sherif N. The functional role of the JAK-STAT pathway in post-infarction remodeling. Cardiovasc Res. 2003;57:129-138.