From genotype to phenotype: A longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene

Journal of Muscle Research and Cell Motility

Volumn 29, Issue 6-8, 2008, Pages 239-246

  Jacques, Adam ^a   Hoskins, Anita C ^b   Kentish, Jonathan C ^b   Marston, Steven B ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Contractility; Human heart; Hypertrophic cardiomyopathy; In vitro motility; Myosin binding protein C; Phosphorylation

Indexed keywords

MYC PROTEIN; PROTEIN MYBPC3; UNCLASSIFIED DRUG;

ADULT; CASE REPORT; CELL STRUCTURE; CLINICAL FEATURE; ECHOCARDIOGRAPHY; GENE MUTATION; GENOTYPE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MUSCLE CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; GENOTYPE; HUMANS; LONGITUDINAL STUDIES; MALE; MUTATION; PHENOTYPE;

EID: 62449192447     PISSN: 01424319     EISSN: 15732657     Source Type: Journal    
DOI: 10.1007/s10974-009-9174-0     Document Type: Review

References (30)

1. A Belus N Piroddi B Scellini C Tesi GD Amati F Girolami M Yacoub F Cecchi I Olivotto C Poggesi 2008 The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils J Physiol 586 Pt 15 3639 3644
2. A Belus N Piroddi B Scellini C Tesi I Olivotto F Girolami MH Yacoub F Cecchi C Poggesi 2008 Is fast cross-bridge detachment a common feature to MYH7 and MYBP3 FHC-associated mutations in human cardiac myofibrils? Biophys J 94 1461
3. S Carballo O Copeland A Jacques K Livesey C Redwood H Watkins S Marston 2008 Evidence for haploinsufficiency as the mechanism of action of MyBP-C mutations that cause HCM J Mol Cell Cardiol 44 4 768 10.1016/j.yjmcc.2008.02.136
4. CH Davies K Davia JG Bennett JR Pepper PA Poole-Wilson SE Harding 1995 Reduced contraction and altered frequency response of isolated ventricular myocytes from patients with heart failure Circulation 92 9 2540 2549
5. PM Elliott JR Gimeno MT Tome J Shah D Ward R Thaman J Mogensen WJ McKenna 2006 Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy Eur Heart J 27 16 1933 1941 10.1093/eurheartj/ehl041
6. S Firoozi PM Elliott S Sharma A Murday SJ Brecker MS Hamid B Sachdev R Thaman WJ McKenna 2002 Septal myotomy-myectomy and transcoronary septal alcohol ablation in hypertrophic obstructive cardiomyopathy. A comparison of clinical, haemodynamic and exercise outcomes Eur Heart J 23 20 1617 1624 10.1053/euhj.2002.3285
7. C Gallon A Jacques A Messer V Tsang W McKenna S Marston 2007 Altered functions and post-translational modification of contractile proteins in myectomy samples from HOCM patients J Mol Cell Cardiol 42 Supplement 1 S167 10.1016/j.yjmcc.2007.03.437
8. CE Gallon E Garcia G Kikonda-Kanda AE Messer S Harding S Marston 2008 Cellular dysfunction and altered contractile protein post-translational modification in hypertrophic cardiomyopathy septal tissue J Mol Cell Cardiol 44 4 746 10.1016/j.yjmcc.2008.02.084
9. R Gray A Jacques N Peters W McKenna J Walker H McIntyre CH Fry 2005 Electromechanical properties of isolated myocardium from ptients with hypertrophic obstructive cardiomyopathy (HOCM) Circulation 112 17 suppl S U149
10. N Hamdani V Kooij S van Dijk D Merkus WJ Paulus CD Remedios DJ Duncker GJ Stienen J van der Velden 2008 Sarcomeric dysfunction in heart failure Cardiovasc Res 77 4 649 658 10.1093/cvr/cvm079
11. 2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers J Gen Physiol 97 6 1141 1163 10.1085/jgp.97.6.1141
12. AC Hoskins A Jacques W McKenna V Tsang CD Remedios S Marston JC Kentish 2008 Altered contractile function in hypertrophied human myocardium (Abstracts ISHR American Sect. 2008) J Mol Cell Cardiol 44 6 S1 S61 10.1016/j.yjmcc.2008. 05.013
13. Jacques, A., Messer, A., Tsang, V., McKenna, W., Marston, S. (2006). Evidence for reduced troponin I phosphorylation and altered troponin function in patients with hypertrophic obstructive cardiomyopathy. Biophysical Journal 2006 Conference proceedings
14. A Jacques N Briceno A Messer C Gallon S Jalizadeh E Garcia G Kikonda-Kanda J Goddard S Harding H Watkins V Tsang W McKenna S Marston 2008 The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy Cardiovasc Res 79 481 491 10.1093/cvr/cvn094
15. A Jacques O Copeland A Messer C Gallon C King W McKenna V Tsang S Marston 2008 Myosin binding protein C phosphorylation in normal, hypertrophic and failing human heart muscle J Mol Cell Cardiol 45 209 216 10.1016/j.yjmcc.2008. 05.020
16. SE Kirschner E Becker M Antognozzi HP Kubis A Francino F Navarro-Lopez N Bit-Avragim A Perrot MM Mirrakhimov KJ Osterziel WJ McKenna B Brenner T Kraft 2005 Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells Am J Physiol Heart Circ Physiol 288 3 H1242 H1251 10.1152/ajpheart.00686. 2004
17. BC Knollmann JD Potter 2001 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy Trends Cardiovasc Med 11 206 212 10.1016/S1050-1738(01)00115-3
18. J Kohler G Winkler T Schulte W McKenna B Brenner T Kraft 2002 Mutation of the myosin converter domain alters cross-bridge elasticity Proc Natl Acad Sci USA 99 6 3557 3562 10.1073/pnas.062415899
19. I Kulikovskaya G McClellan R Levine S Winegrad 2003 Effect of extraction of myosin binding protein C on contractility of rat heart Am J Physiol Heart Circ Physiol 285 2 H857 H865
20. AE Messer AM Jacques SB Marston 2007 Troponin phosphorylation and regulatory function in human heart muscle: dephosphorylation of Ser23/24 on troponin I could account for the contractile defect in end-stage heart failure J Mol Cell Cardiol 42 1 247 259 10.1016/j.yjmcc.2006.08.017
21. AG Morrow BA Reitz SE Epstein WL Henry DM Conkle SB Itscoitz DR Redwood 1975 Operative treatment in hypertrophic subaortic stenosis. Techniques, and the results of pre and postoperative assessments in 83 patients Circulation 52 1 88 102
22. KA Palmiter MJ Tyska JR Haeberle NR Alpert L Fananapazir DM Warshaw 2000 R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level J Musc Res Cell Motil 21 7 609 620 10.1023/A:1005678905119
23. CS Redwood JC Moolman-Smook H Watkins 1999 Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy Cardiovasc Res 44 20 36 10.1016/S0008-6363(99)00213-8
24. P Richard P Charron L Carrier C Ledeuil T Cheav C Pichereau A Benaiche R Isnard O Duborg M Burban J-P Geffet A Millaire M Desnos K Schwartz B Hainque M Komadja 2003 Hypertrophic cardiomyopathy distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy Circulation 107 2227 2232 10.1161/01.CIR.0000066323.15244.54
25. P Robinson M Mirza A Knott H Abdulrazzak R Willott S Marston H Watkins C Redwood 2002 Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy J Biol Chem 277 40710 40716 10.1074/jbc.M203446200
26. P Robinson PJ Griffiths H Watkins CS Redwood 2007 Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments Circ Res 101 12 1266 1273 10.1161/CIRCRESAHA.107.156380
27. JC Tardiff 2005 Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes Heart Fail Rev 10 3 237 248 10.1007/s10741-005-5253-5
28. 2+-sensitivity of the contractile apparatus in end-stage human heart failure results from altered phosphorylation of contractile proteins Cardiovasc Res 57 1 37 47 10.1016/S0008-6363(02)00606-5
29. SL Van Driest MA Jaeger SR Ommen ML Will BJ Gersh AJ Tajik MJ Ackerman 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy J Am Coll Cardiol 44 3 602 610 10.1016/j.jacc.2004.04.039
30. SL Van Driest VC Vasile SR Ommen ML Will AJ Tajik BJ Gersh MJ Ackerman 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy J Am Coll Cardiol 44 9 1903 1910 10.1016/j.jacc.2004.07.045