Functional Effects of a Restrictive-Cardiomyopathy-Linked Cardiac Troponin I Mutation (R145W) in Transgenic Mice

Journal of Molecular Biology

Volumn 392, Issue 5, 2009, Pages 1158-1167

  Wen, Yuhui ^a   Xu, Yuanyuan ^a   Wang, Yingcai ^a   Pinto, Jose Renato ^a   Potter, James D ^a   Kerrick, W Glenn L ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

cross bridge; R145W; RCM; troponin

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CALCIUM ION; TROPONIN I;

ACTIN MYOSIN INTERACTION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DIASTOLE; ENERGY; ENZYME ACTIVITY; HEART LEFT VENTRICLE FILLING; HEART PAPILLARY MUSCLE; MOUSE; MUSCLE FORCE; MUTATION; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RESTRICTIVE CARDIOMYOPATHY; SKINNED MUSCLE FIBER; SYSTOLE; TRANSGENIC MOUSE; TURNOVER TIME; WILD TYPE;

MUS MUSCULUS;

ADENOSINE TRIPHOSPHATE; AMINO ACID SUBSTITUTION; ANIMALS; CARDIOMYOPATHY, RESTRICTIVE; HUMANS; MICE; MICE, TRANSGENIC; MUTATION, MISSENSE; MYOCARDIAL CONTRACTION; MYOFIBRILS; TROPONIN I;

EID: 70149123629     PISSN: 00222836     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmb.2009.07.080     Document Type: Article

References (33)

1. WHO/ISFC (1980). Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br Heart J 44, 672-673.
2. Artz G., and Wynne J. Restrictive cardiomyopathy. Curr. Treat. Options Cardiovasc. Med. 2 (2000) 431-438
3. Ammash N.M., Seward J.B., Bailey K.R., Edwards W.D., and Tajik A.J. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation 101 (2000) 2490-2496
4. Mogensen J., Kubo T., Duque M., Uribe W., Shaw A., Murphy R., et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J. Clin. Invest. 111 (2003) 209-216
5. Gordon A.M., Homsher E., and Regnier M. Regulation of contraction in striated muscle. Physiol. Rev. 80 (2000) 853-924
6. Gomes A.V., Liang J., and Potter J.D. Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. J. Biol. Chem. 280 (2005) 30909-30915
7. 2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. Biochem. Biophys. Res. Commun. 338 (2005) 1519-1526
8. 2+-independent mechanical tone and acute myocyte remodeling. Circ. Res. 100 (2007) 1494-1502
9. Kimura A., Harada H., Park J.E., Nishi H., Satoh M., Takahashi M., et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat. Genet. 16 (1997) 379-382
10. Lang R., Gomes A.V., Zhao J., Housmans P.R., Miller T., and Potter J.D. Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. J. Biol. Chem. 277 (2002) 11670-11678
11. Wen Y., Pinto J.R., Gomes A.V., Xu Y., Wang Y., Wang Y., et al. Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. J. Biol. Chem. 283 (2008) 20484-20494
12. Huxley A.F. Muscle structure and theories of contraction. Prog. Biophys. Biophys. Chem. 7 (1957) 255-318
13. Robinson J.M., Wang Y., Kerrick W.G., Kawai R., and Cheung H.C. Activation of striated muscle: nearest-neighbor regulatory-unit and cross-bridge influence on myofilament kinetics. J. Mol. Biol. 322 (2002) 1065-1088
14. Wang Y., Xu Y., Guth K., and Kerrick W.G. Troponin C regulates the rate constant for the dissociation of force-generating myosin cross-bridges in cardiac muscle. J. Muscle Res. Cell Motil. 20 (1999) 645-653
15. Wang Y., and Kerrick W.G. The off rate of Ca(2+) from troponin C is regulated by force-generating cross bridges in skeletal muscle. J. Appl. Physiol. 92 (2002) 2409-2418
16. Solaro R.J., and Rarick H.M. Troponin and tropomyosin: proteins that switch on and tune in the activity of cardiac myofilaments. Circ. Res. 83 (1998) 471-480
17. 2+-specific sites of cardiac troponin and troponin C. J. Biol. Chem. 255 (1980) 9635-9640
18. 2+-specific regulatory sites in skinned rabbit psoas fibers. J. Biol. Chem. 262 (1987) 13627-13635
19. 2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. J. Biol. Chem. 281 (2006) 13471-13477
20. Bers D.M. In: Bers D.M. (Ed). Calcium Sources and Sinks (2001), Kluwer Academic Publishers, Boston
21. 2+-sensitive regulatory switch, a system in dynamic equilibrium. Biophys. J. 95 (2008) 4772-4789
22. Elliott K., Watkins H., and Redwood C.S. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J. Biol. Chem. 275 (2000) 22069-22074
23. De Mello W.C. The role of cAMP and Ca on the modulation of junctional conductance: an integrated hypothesis. Cell Biol. Int. Rep. 7 (1983) 1033-1040
24. Apple F.S., Maturen A.J., Mullins R.E., Painter P.C., Pessin-Minsley M.S., Webster R.A., et al. Multicenter clinical and analytical evaluation of the AxSYM troponin-I immunoassay to assist in the diagnosis of myocardial infarction. Clin. Chem. 45 (1999) 206-212
25. Ausubel F.M., Kingston R.E., Moore D.D., Seidman J.G., Smith J.A., and Struhl K. Current Protocols in Molecular Biology (1995), John Wiley and Sons, New York
26. Brinster R.L., Chen H.Y., Trumbauer M.E., Yagle M.K., and Palmiter R.D. Factors affecting the efficiency of introducing foreign DNA into mice by microinjecting eggs. Proc. Natl Acad. Sci. USA 82 (1985) 4438-4442
27. 2+-activated tension generation of skinned rat cardiac fibers. J. Gen. Physiol. 71 (1978) 645-655
28. Allen K., Xu Y.Y., and Kerrick W.G. Ca(2+) measurements in skinned cardiac fibers: effects of Mg(2+) on Ca(2+) activation of force and fiber ATPase. J. Appl. Physiol. 88 (2000) 180-185
29. Guth K., and Wojciechowski R. Perfusion cuvette for the simultaneous measurement of mechanical, optical and energetic parameters of skinned muscle fibres. Pflugers Arch. 407 (1986) 552-557
30. Hernandez O.M., Szczesna-Cordary D., Knollmann B.C., Miller T., Bell M., Zhao J., et al. F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers. J. Biol. Chem. 280 (2005) 37183-37194
31. 2+ activation of force and actomyosin ATPase activity in skinned muscle fibers: effects of [MgATP] and temperature. J. Biol. Chem. 280 (2004) 37183-37194
32. Takashi R., and Putnam S. A fluorimetric method for continuously assaying ATPase: application to small specimens of glycerol-extracted muscle fibers. Anal. Biochem. 92 (1979) 375-382
33. Ferenczi M.A., Homsher E., and Trentham D.R. The kinetics of magnesium adenosine triphosphate cleavage in skinned muscle fibres of the rabbit. J. Physiol. 352 (1984) 575-599