Genetic Engineering and Therapy for Inherited and Acquired Cardiomyopathies
dc.contributor.author | Day, Sharlene | en_US |
dc.contributor.author | Davis, Jennifer | en_US |
dc.contributor.author | Westfall, Margaret V. | en_US |
dc.contributor.author | Metzger, Joseph M. | en_US |
dc.date.accessioned | 2010-06-01T19:07:42Z | |
dc.date.available | 2010-06-01T19:07:42Z | |
dc.date.issued | 2006-10 | en_US |
dc.identifier.citation | DAY, SHARLENE; DAVIS, JENNIFER; WESTFALL, MARGARET; METZGER, JOSEPH (2006). "Genetic Engineering and Therapy for Inherited and Acquired Cardiomyopathies." Annals of the New York Academy of Sciences 1080(1 Interactive and Integrative Cardiology ): 437-450. <http://hdl.handle.net/2027.42/72315> | en_US |
dc.identifier.issn | 0077-8923 | en_US |
dc.identifier.issn | 1749-6632 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/72315 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17132800&dopt=citation | en_US |
dc.description.abstract | The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to a reduced sensitivity of the myofilaments to calcium under acidic pH conditions. Over the last several years, the thin filament regulatory protein, troponin I, has been identified as an important mediator of this response. Mutations in troponin I and other sarcomere genes are also linked to several distinct inherited cardiomyopathic phenotypes, including hypertrophic, dilated, and restrictive cardiomyopathies. With the cardiac sarcomere emerging as a central player for such a diverse array of human heart diseases, genetic-based strategies that target the myofilament will likely have broad therapeutic potential. The development of safe vector systems for efficient gene delivery will be a critical hurdle to overcome before these types of therapies can be successfully applied. Nonetheless, studies focusing on the principles of acute genetic engineering of the sarcomere hold value as they lay the essential foundation on which to build potential gene-based therapies for heart disease. | en_US |
dc.format.extent | 140127 bytes | |
dc.format.extent | 3109 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Blackwell Publishing Inc | en_US |
dc.rights | 2006 New York Academy of Sciences | en_US |
dc.subject.other | Myofilament Regulation | en_US |
dc.subject.other | Troponin I | en_US |
dc.subject.other | Gene Delivery | en_US |
dc.subject.other | Sarcomere | en_US |
dc.subject.other | Gene-based Therapies | en_US |
dc.title | Genetic Engineering and Therapy for Inherited and Acquired Cardiomyopathies | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Science (General) | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, Ann Arbor Michigan, 48103, USA | en_US |
dc.contributor.affiliationum | Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor Michigan, 48103, USA | en_US |
dc.contributor.affiliationum | Department of Surgery, University of Michigan, Ann Arbor Michigan, 48103, USA | en_US |
dc.identifier.pmid | 17132800 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/72315/1/annals.1380.033.pdf | |
dc.identifier.doi | 10.1196/annals.1380.033 | en_US |
dc.identifier.source | Annals of the New York Academy of Sciences | en_US |
dc.identifier.citedreference | Thom, T., N. Haase, et al. 2006. Heart disease and stroke statistics–2006 Update. A Report From the American Heart Association Statistics Committee and Stroke Statistics Subcommittee Circulation. | en_US |
dc.identifier.citedreference | Mitk, A.M. 2006. Do lackluster trial findings mean new avenues are needed for heart research? JAMA 295: 611 – 612. | en_US |
dc.identifier.citedreference | Katz, A. 2001. Physiology of the Heart. Lippincott Williams and Wilkins. Philadelphia. | en_US |
dc.identifier.citedreference | Orchard, C.H. & J.C. Kentish. 1990. Effects of changes of pH on the contractile function of cardiac muscle. Am. J. Physiol. 258: C967 – C981. | en_US |
dc.identifier.citedreference | Solaro, R.J., J.A. Lee, J.C. Kentish & D.G. Allen 1988. Effects of acidosis on ventricular muscle from adult and neonatal rats. Circ. Res. 63: 779 – 787. | en_US |
dc.identifier.citedreference | Westfall, M.V., E.M. Rust & J.M. Metzger 1997. Slow skeletal troponin I gene transfer, expression, and myofilament incorporation enhances adult cardiac myocyte contractile function. Proc. Natl. Acad. Sci. USA 94: 5444 – 5449. | en_US |
dc.identifier.citedreference | Westfall, M.V., F.P. Albayya, I.I. Turner & J.M. Metzger 2000. Chimera analysis of troponin I domains that influence Ca 2+ -activated myofilament tension in adult cardiac myocytes. Circ. Res. 86: 470 – 477. | en_US |
dc.identifier.citedreference | Reiser, P.J., M.V. Westfall, S. Schiaffino & R.J. Solaro 1994. Tension production and thin-filament protein isoforms in developing rat myocardium. Am. J. Physiol. 36: H1589 – H1596. | en_US |
dc.identifier.citedreference | 9. Nhlbi Program for Genomic application. 2006. Genomics of Cardiovascular Development, Adaptation, and Remodeling. Harvard Medical School. Ref Type: Electronic Citation | en_US |
dc.identifier.citedreference | Westfall, M.V. & J.M. Metzger 2001. Troponin I isoforms and chimeras: tuning the molecular switch of cardiac contraction. News Physiol. Sci. 16: 278 – 281. | en_US |
dc.identifier.citedreference | Saggin, L., L. Gorza, S. Ausoni & S. Schiaffino. 1989. Troponin I switching in the developing heart. J. Biol. Chem. 264: 16299 – 16302. | en_US |
dc.identifier.citedreference | Hunkeler, N.M., J. Kullman & A.M. Murphy. 1991. Troponin I isoform expression in human heart. Circ. Res. 69: 1409 – 1414. | en_US |
dc.identifier.citedreference | Wolska, B.M., K. Vijayan, G.M. Arteaga, et al. 2001. Expression of slow skeletal troponin I in adult transgenic mouse heart muscle reduces the force decline observed during acidic conditions. J. Physiol. 536: 863 – 870. | en_US |
dc.identifier.citedreference | Westfall, M.V., I.I. Turner, F.P. Albayya & J.M. Metzger 2001. Troponin I chimera analysis of the cardiac myofilament tension response to protein kinase A. Am. J. Physiol. 280: C324 – C332. | en_US |
dc.identifier.citedreference | Westfall, M.V., F.P. Albayya & J.M. Metzger 1999. Functional analysis of troponin I regulatory domains in the intact myofilament of adult single cardiac myocytes. J. Biol. Chem. 274: 22508 – 22516. | en_US |
dc.identifier.citedreference | Day, S.M., M.V. Westfall, et al. 2006. Histidine button engineered into cardiac troponin I protects the ischemic and failing heart. Nat. Med. 12: 181 – 189. | en_US |
dc.identifier.citedreference | Teerlink, J.R. 2005. Overview of randomized clinical trials in acute heart failure syndromes. Am. J. Cardiol. 96: 59G – 67G. | en_US |
dc.identifier.citedreference | Bayram, M., L.L. De, M.B. Massie & M. Gheorghiade. 2005. Reassessment of dobutamine, dopamine, and milrinone in the management of acute heart failure syndromes. Am. J. Cardiol. 96: 47G – 58G. | en_US |
dc.identifier.citedreference | Hoshijima, M. 2005. Gene therapy targeted at calcium handling as an approach to the treatment of heart failure. Pharmacol. Ther. 105: 211 – 228. | en_US |
dc.identifier.citedreference | Maron, B.J. 2002. Hypertrophic cardiomyopathy: a systematic review. JAMA 287: 1308 – 1320. | en_US |
dc.identifier.citedreference | Maron, B.J. 2003. Sudden death in young athletes. N. Engl. J. Med. 349: 1064 – 1075. | en_US |
dc.identifier.citedreference | Nishimura, R.A. & D.R. Holmes Jr. 2004. Clinical practice. Hypertrophic obstructive cardiomyopathy. N. Engl. J. Med. 350: 1320 – 1327. | en_US |
dc.identifier.citedreference | Richard, P., P. Charron, L. Carrier, et al. 2003. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107: 2227 – 2232. | en_US |
dc.identifier.citedreference | Van Driest, S.L., S.R. Ommen, et al. 2005. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin. Proc. 80: 463 – 469. | en_US |
dc.identifier.citedreference | Ahmad, F., J.G. Seidman & C.E. Seidman. 2005. The genetic basis for cardiac remodeling. Annu. Rev. Genomics Hum. Genet. 6: 185 – 216. | en_US |
dc.identifier.citedreference | Blair, E., C. Redwood, et al. 2001. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Mol. Genet. 10: 1215 – 1220. | en_US |
dc.identifier.citedreference | Charron, P., O. Dubourg, et al. 1998. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein. C Gene Circ. 97: 2230 – 2236. | en_US |
dc.identifier.citedreference | Ho, C.Y., H.M. Lever, et al. 2000. Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation 102: 1950 – 1955. | en_US |
dc.identifier.citedreference | Marian, A.J. 2002. Modifier genes for hypertrophic cardiomyopathy. Curr. Opin. Cardiol. 17: 242 – 252. | en_US |
dc.identifier.citedreference | Michele, D.E., C.A. Gomez, K.E. Hong, et al. 2002. Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade. Circ. Res. 92: 255 – 262. | en_US |
dc.identifier.citedreference | Fatkin, D., B.K. Mcconnell, et al. 2000. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J. Clin. Invest. 106: 1351 – 1359. | en_US |
dc.identifier.citedreference | Semsarian, C., I. Ahmad, et al. 2002. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J. Clin. Invest. 109: 1013 – 1020. | en_US |
dc.identifier.citedreference | Knollmann, B.C., P. Kirchhof, et al. 2003. Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling. Circ. Res. 92: 428 – 436. | en_US |
dc.identifier.citedreference | Spindler, M., K.W. Saupe, et al. 1998. Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy. J. Clin. Invest. 101: 1775 – 1783. | en_US |
dc.identifier.citedreference | Javadpour, M.M., J.C. Tardiff, I. Pinz & J.S. Ingwall 2003. Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T. J. Clin. Invest. 112: 768 – 775. | en_US |
dc.identifier.citedreference | Fatkin, D. & R.M. Graham. 2002. Molecular mechanisms of inherited cardiomyopathies. Physiol. Rev. 82: 945 – 980. | en_US |
dc.identifier.citedreference | Kamisago, M., S.D. Sharma, et al. 2000. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med. 343: 1688 – 1696. | en_US |
dc.identifier.citedreference | Daehmlow, S., J. Erdmann, et al. 2002. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 298: 116 – 120. | en_US |
dc.identifier.citedreference | Chang, A.N., K. Harada, M.J. Ackerman & J.D. Potter. 2005. Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin. J. Biol. Chem. 280: 34343 – 34349. | en_US |
dc.identifier.citedreference | Mirza, M., S. Marston, et al. 2005. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J. Biol. Chem. 280: 28498 – 28506. | en_US |
dc.identifier.citedreference | Kushwaha, S.S., J.T. Fallon & V. Fuster. 1997. Restrictive cardiomyopathy. N. Engl. J. Med. 336: 267 – 276. | en_US |
dc.identifier.citedreference | Mogensen, J., R. Kubo, et al. 2003. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J. Clin. Invest. 111: 209 – 216. | en_US |
dc.identifier.citedreference | Gomes, A.V., J. Liang & J.D. Potter. 2005. 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: 30909 – 30915. | en_US |
dc.identifier.citedreference | Yumoto, F., Q.W. Lu, et al. 2005. Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. Biochem. Biophys. Res. Commun. 338: 1519 – 1526. | en_US |
dc.identifier.citedreference | Haghighi, K., K.N. Gregory & E.G. Kranias. 2004. Sarcoplasmic reticulum Ca-ATPase-phospholamban interactions and dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 322: 1214 – 1222. | en_US |
dc.identifier.citedreference | Szatkowski, M.L., M.V. Westfall, et al. 2001. In vivo acceleration of heart relaxation performance by Parvalbumin gene delivery. J. Clin. Invest. 107: 191 – 198. | en_US |
dc.identifier.citedreference | Rothermel, B.A., T.A. Mckinsey, R.B. Vega, et al. 2001. Myocyte-enriched calcineurin-interacting protein, MCIP1, inhibits cardiac hypertrophy in vivo. Proc. Natl. Acad. Sci. USA 98: 3328 – 3333. | en_US |
dc.identifier.citedreference | Sussman, M.A., H.W. Lim, N. Gude, et al. 1998. Prevention of cardiac hypertrophy in mice by calcineurin inhibition. Science 281: 1690 – 1693. | en_US |
dc.identifier.citedreference | Zhang, R., M.S. Khoo, Y. Wu, et al. 2005. Calmodulin kinase II inhibition protects against structural heart disease. Nat. Med. 11: 409 – 417. | en_US |
dc.identifier.citedreference | Robbins, J. 2000. Remodeling the cardiac sarcomere using transgenesis. Annu. Rev. Physiol. 62: 261 – 287. | en_US |
dc.identifier.citedreference | Michele, D.E., F. Albayya & J.M. Metzger 1999. Thin filament protein dynamics in fully differentiated adult cardiac myocytes: toward a model of sarcomere maintenance. J. Cell. Biol. 145: 1483 – 1495. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.