Hypertrophic Cardiomyopathy: Cell-to-Cell Imbalance in Gene Expression and Contraction Force as Trigger for Disease Phenotype Development

Circulation Research

Volumn 119, Issue 9, 2016, Pages 992-995

  Kraft, Theresia ^a   Montag, Judith ^a   Radocaj, Ante ^a   Brenner, Bernhard ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

allelic imbalance; cardiomyocytes; cardiomyopathy; contractile protein; heart failure; hypertrophic; myosin heavy chains

Indexed keywords

BINDING PROTEIN; CARDIAC MYOSIN; CARDIAC MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; UNCLASSIFIED DRUG;

CARDIAC MUSCLE CELL; GENE; GENE EXPRESSION; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE CONTRACTILE FORCE; HEART MUSCLE FIBROSIS; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MUSCLE FIBER CONTRACTION; MYH7 GENE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SARCOMERE; SUDDEN CARDIAC DEATH; WILD TYPE; ANIMAL; CELL COMMUNICATION; GENETICS; HEART CONTRACTION; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY;

ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; CELL COMMUNICATION; GENE EXPRESSION; HUMANS; MUTATION; MYOCARDIAL CONTRACTION; PHENOTYPE;

EID: 84992027417     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.116.309804     Document Type: Review

References (20)

1. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet. 2013;381:242-255. doi: 10.1016/S0140-6736(12)60397-3
2. Ho CY, Charron P, Richard P, Girolami F, Spaendonck-Zwarts KY, Pinto Y. Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res. 2015;105:397-408. doi: 10.1093/cvr/cvv025
3. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology. 2004;44:412-427. doi: 10.1111/j.1365-2559.2004. 01835.x
4. Varnava AM, Elliott PM, Sharma S, McKenna WJ, Davies MJ. Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease. Heart. 2000;84:476-482
5. Ashrafian H, McKenna WJ, Watkins H. Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy. Circ Res. 2011;109:86-96. doi: 10.1161/CIRCRESAHA.111.242974
6. Mirza M, Marston S, Willott R, Ashley C, Mogensen J, McKenna W, Robinson P, Redwood C, Watkins H. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem. 2005;280:28498-28506. doi: 10.1074/jbc. M412281200
7. Robinson P, Griffiths PJ, Watkins H, Redwood CS. Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Circ Res. 2007;101:1266-1273. doi: 10.1161/CIRCRESAHA.107.156380
8. Debold EP, Schmitt JP, Patlak JB, Beck SE, Moore JR, Seidman JG, Seidman C, Warshaw DM. Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. Am J Physiol Heart Circ Physiol. 2007;293:H284-H291. doi: 10.1152/ajpheart.00128.2007
9. Venkatraman G, Harada K, Gomes AV, Kerrick WG, Potter JD. Different functional properties of troponin T mutants that cause dilated cardiomyopathy. J Biol Chem. 2003;278:41670-41676. doi: 10.1074/jbc. M302148200
10. Kirschner SE, Becker E, Antognozzi M, Kubis HP, Francino A, Navarro-López F, Bit-Avragim N, Perrot A, Mirrakhimov MM, Osterziel KJ, McKenna WJ, Brenner B, Kraft T. Hypertrophic cardiomyopathyrelated beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells. Am J Physiol Heart Circ Physiol. 2005;288:H1242-H1251. doi: 10.1152/ ajpheart.00686.2004
11. van Dijk SJ, Paalberends ER, Najafi A, Michels M, Sadayappan S, Carrier L, Boontje NM, Kuster DW, van Slegtenhorst M, Dooijes D, dos Remedios C, ten Cate FJ, Stienen GJ, van der Velden J. Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function. Circ Heart Fail. 2012;5:36-46. doi: 10.1161/CIRCHEARTFAILURE.111.963702
12. Kraft T, Witjas-Paalberends ER, Boontje NM, Tripathi S, Brandis A, Montag J, Hodgkinson JL, Francino A, Navarro-Lopez F, Brenner B, Stienen GJ, van der Velden J. Familial hypertrophic cardiomyopathy: functional effects of myosin mutation R723G in cardiomyocytes. J Mol Cell Cardiol. 2013;57:13-22. doi: 10.1016/j.yjmcc.2013.01.001
13. Tripathi S, Schultz I, Becker E, Montag J, Borchert B, Francino A, Navarro-Lopez F, Perrot A, Özcelik C, Osterziel KJ, McKenna WJ, Brenner B, Kraft T. Unequal allelic expression of wild-type and mutated and beta-myosin in familial hypertrophic cardiomyopathy. Basic Res Cardiol. 2011;106:1041-1055. doi: 10.1007/s00395-011-0205-9
14. Teekakirikul P, Eminaga S, Toka O, et al. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-and beta. J Clin Invest. 2010;120:3520-3529. doi: 10.1172/JCI42028
15. Brenner B, Seebohm B, Tripathi S, Montag J, Kraft T. Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development. Front Physiol. 2014;5:392. doi: 10.3389/fphys.2014.00392
16. Sharova LV, Sharov AA, Nedorezov T, Piao Y, Shaik N, Ko MS. Database for mRNA half-life of 19 977 genes obtained by DNA microarray analysis of pluripotent and differentiating mouse embryonic stem cells. DNA Res. 2009;16:45-58. doi: 10.1093/dnares/dsn030
17. Schwanhäusser B, Busse D, Li N, Dittmar G, Schuchhardt J, Wolf J, Chen W, Selbach M. Global quantification of mammalian gene expression control. Nature. 2011;473:337-342. doi: 10.1038/ nature10098
18. Everett AW, Clark WA, Chizzonite RA, Zak R. Change in synthesis rates of alpha-and beta-myosin heavy chains in rabbit heart after treatment with thyroid hormone. J Biol Chem. 1983;258:2421-2425
19. Ho CY, Lakdawala NK, Cirino AL, Lipshultz SE, Sparks E, Abbasi SA, Kwong RY, Antman EM, Semsarian C, González A, López B, Diez J, Orav EJ, Colan SD, Seidman CE. Diltiazem treatment for preclinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression. JACC Heart Fail. 2015;3:180-188. doi: 10.1016/j.jchf.2014.08.003
20. Teekakirikul P, Padera RF, Seidman JG, Seidman CE. Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics. J Cell Biol. 2012;199:417-421. doi: 10.1083/jcb.201207033