Hypertrophic cardiomyopathy: A paradigm for myocardial energy depletion

Trends in Genetics

Volumn 19, Issue 5, 2003, Pages 263-268

  Ashrafian, Houman ^a   Redwood, Charles ^a   Blair, Edward ^a   Watkins, Hugh ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONTRACTILE PROTEIN; MYOSIN HEAVY CHAIN; NEUROHORMONE; PROTEIN KINASE;

CARDIOMYOPATHY; CHROMOSOME MUTATION; CLINICAL EXAMINATION; CLINICAL FEATURE; DIASTOLE; ENERGY METABOLISM; ENERGY TRANSFER; ENZYME ACTIVATION; GENE MUTATION; HEART CONTRACTION; HEART MUSCLE; HEART STRESS; HEART STROKE VOLUME; HEART VENTRICLE HYPERTROPHY; HUMAN; LABORATORY TEST; MECHANORECEPTOR; MUSCLE FUNCTION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SARCOMERE; SIGNAL PROCESSING; SYSTOLE;

EID: 0037407012     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(03)00081-7     Document Type: Review

References (43)

1. Seidman J.G., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 104:2001;557-567.
2. Thierfelder L., et al. α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 77:1994;701-712.
3. Watkins H., et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. New Engl. J. Med. 326:1992;1108-1114.
4. Anan R., et al. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J. Clin. Invest. 93:1994;280-285.
5. Watkins H., et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. New Engl. J. Med. 332:1995;1058-1064.
6. Moolman J.C., et al. Sudden death due to troponin T mutations. J. Am. Coll. Cardiol. 29:1997;549-555.
7. Niimura H., et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. New Engl. J. Med. 338:1998;1248-1257.
8. Charron P., et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation. 97:1998;2230-2236.
9. Braunwald E. Heart Disease; a Textbook of Cardiovascular Medicine. 2002;W. B. Saunders.
10. Lankford E.B., et al. Abnormal contractile properties of muscle fibers expressing β-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J. Clin. Invest. 95:1995;1409-1414.
11. Watkins H., et al. Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. J. Clin. Invest. 98:1996;2456-2461.
12. Marian A.J. Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy. Lancet. 355:2000;58-60.
13. Sata M., Ikebe M. Functional analysis of the mutations in the human cardiac β-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome. J. Clin. Invest. 98:1996;2866-2873.
14. Lowey S. Functional consequences of mutations in the Myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. Trends Cardiovasc. Med. 12:2002;348-354.
15. Sweeney H.L., et al. Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. Proc. Natl. Acad. Sci. U. S. A. 95:1998;14406-14410.
16. Homsher E., et al. Regulation of force and unloaded sliding speed in single thin filaments: effects of regulatory proteins and calcium. J. Physiol. 524:2000;233-243.
17. Elliott K., et al. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. J. Biol. Chem. 275:2000;22069-22074.
18. Michele D.E., et al. Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant α-tropomyosins in adult cardiac myocytes. Nat. Med. 5:1999;1413-1417.
19. Ho C.Y., et al. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 105:2002;2992-2997.
20. Duke T.A. Molecular model of muscle contraction. Proc. Natl. Acad. Sci. U. S. A. 96:1999;2770-2775.
21. Merante F., et al. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. Am. J. Hum. Genet. 55:1994;437-446.
22. Lodi R., et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc. Natl. Acad. Sci. U. S. A. 96:1999;11492-11495.
23. Tanaka T., et al. Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy? J. Mol. Cell. Cardiol. 29:1997;121-127.
24. Aoyama T., et al. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J. Clin. Invest. 95:1995;2465-2473.
25. Graham B.H., et al. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat. Genet. 16:1997;226-234.
26. Jordens E.Z., et al. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann. Neurol. 52:2002;95-99.
27. Hardie D.G., Carling D. The AMP-activated protein kinase-fuel gauge of the mammalian cell? Eur. J. Biochem. 246:1997;259-273.
28. Blair E., et al. Mutations in the γ(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. 10:2001;1215-1220.
29. Gollob M.H., et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. New Engl. J. Med. 344:2001;1823-1831.
30. Arad M., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J. Clin. Invest. 109:2002;357-362.
31. Jung W.I., et al. 31P NMR spectroscopy detects metabolic abnormalities in asymptomatic patients with hypertrophic cardiomyopathy. Circulation. 97:1998;2536-2542.
32. Crilley, J.C. et al. Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterised by impaired energy metabolism irrespective of the degree of hypertrophy. J. Am. Coll. Cardiol. (in press).
33. Arbustini E., et al. Coexistence of mitochondrial DNA and β myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart. 80:1998;548-558.
34. Spindler M., et al. Diastolic dysfunction and altered energetics in the αMHC403/+ mouse model of familial hypertrophic cardiomyopathy. J. Clin. Invest. 101:1998;1775-1783.
35. Lucas D.T., et al. Alterations in mitochondrial function in a mouse model of hypertrophic cardiomyopathy. Am. J. Physiol. Heart Circ. Physiol. 284:2003;H575-H583.
36. Montgomery D.E., et al. Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice. J. Physiol. 536:2001;583-592.
37. Frey N., et al. Decoding calcium signals involved in cardiac growth and function. Nat. Med. 6:2000;1221-1227.
38. Frey N., Olson E.N. Cardiac hypertrophy: the good, the bad, and the ugly. Annu. Rev. Physiol. 65:2003;45-79.
39. DeAnda A. Jr, et al. Estimation of regional left ventricular wall stresses in intact canine hearts. Am. J. Physiol. 275:1998;H1879-H1885.
40. Dunn R.B. High energy phosphate depletion and lactate accumulation in the interventricular septum and left ventricular free wall of the dog after total coronary occlusion. Circ. Res. 54:1984;405-413.
41. Wallace D.C. Mitochondrial diseases in man and mouse. Science. 283:1999;1482-1488.
42. Neubauer S. High-energy phosphate metabolism in normal, hypertrophied and failing human myocardium. Heart Fail. Rev. 4:1999;269-280.
43. Levy D., et al. Prognostic implications of echocardiographically determined left ventricular mass in the framingham heart study. New Engl. J. Med. 322:1990;1561-1566.