A novel mouse model of X-linked cardiac hypertrophy

American Journal of Physiology - Heart and Circulatory Physiology

Volumn 294, Issue 6, 2008, Pages

  Leatherbury, L ^a,b   Yu, Q ^a   Chatterjee, B ^a   Walker, D L ^a   Yu, Z ^a   Tian, X ^a   Lo, C W ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Echocardiography; Hypertrophic cardiomyopathy; Ultrasound; X linked cardiomyopathy

Indexed keywords

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY WEIGHT; C3H MOUSE; C57BL 6 MOUSE; CELL PROLIFERATION; CELL SIZE; CELL ULTRASTRUCTURE; DNA SEQUENCE; DOPPLER ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HEART EJECTION FRACTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MITOCHONDRION; HEART MUSCLE CELL; HEART VENTRICLE HYPERTROPHY; HEART WEIGHT; HISTOPATHOLOGY; HYPERTROPHIC CARDIOMYOPATHY; M MODE ECHOCARDIOGRAPHY; MALE; MOUSE; NONHUMAN; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; X CHROMOSOME LINKED DISORDER; AGING; ANIMAL; C57BL MOUSE; CHROMOSOME MAP; DISEASE MODEL; GENETICS; HEART CONTRACTION; HEART LEFT VENTRICLE FUNCTION; HEART STROKE VOLUME; HEART VENTRICLE; MOUSE MUTANT; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; ULTRASTRUCTURE; X CHROMOSOME;

MICROSATELLITE DNA;

AGING; ANIMALS; CHROMOSOME MAPPING; DISEASE MODELS, ANIMAL; ECHOCARDIOGRAPHY, DOPPLER, COLOR; GENETIC DISEASES, X-LINKED; HEART VENTRICLES; HYPERTROPHY, LEFT VENTRICULAR; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICROSATELLITE REPEATS; MICROSCOPY, ELECTRON; MITOCHONDRIA, HEART; MUTATION; MYOCARDIAL CONTRACTION; MYOCYTES, CARDIAC; SARCOPLASMIC RETICULUM; STROKE VOLUME; VENTRICULAR FUNCTION, LEFT; X CHROMOSOME;

EID: 49249130572     PISSN: 03636135     EISSN: 15221539     Source Type: Journal    
DOI: 10.1152/ajpheart.00160.2007     Document Type: Article

References (46)

1. Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352: 362-372, 2005.
2. Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 126: 349-354, 2004.
3. Brandner K, Mick DU, Frazier AE, Taylor RD, Meisinger C, Rehling P. Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. Mol Biol Cell 16: 5202-5214, 2005.
4. Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 77: 319-325, 2002.
5. Cherin E, Williams R, Needles A, Liu G, White C, Brown AS, Zhou YQ, Foster FS. Ultrahigh frame rate retrospective ultrasound microimaging and blood flow visualization in mice in vivo. Ultrasound Med Biol 32: 683-691, 2006.
6. Christensen G, Wang Y, Chien KR. Physiological assessment of complex cardiac phenotypes in genetically engineered mice. Am J Physiol Heart Circ Physiol 272: H2513-H2524, 1997.
7. Chung MW, Tsoutsman T, Semsarian C. Hypertrophic cardiomyopathy: from gene defect to clinical disease. Cell Res 13: 9-20, 2003.
8. D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61: 862-867, 1997.
9. D'Amore A, Black MJ, Thomas WG. The angiotensin II type 2 receptor causes constitutive growth of cardiomyocytes and does not antagonize angiotensin II type 1 receptor-mediated hypertrophy. Hypertension 46: 1347-1354, 2005.
10. Exil VJ, Gardner CD, Rottman JN, Sims H, Bartelds B, Khuchua Z, Sindhal R, Ni G, Strauss AW. Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am J Physiol Heart Circ Physiol 290: H1289-H1297, 2006.
11. Exil VJ, Roberts RL, Sims H, McLaughlin JE, Malkin RA, Gardner CD, Ni G, Rottman JN, Strauss AW. Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. Circ Res 93: 448-455, 2003.
12. Fatkin D, Christe ME, Aristizabal O, McConnell BK, Srinivasan S, Schoen FJ, Seidman CE, Turnbull DH, Seidman JG. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. J Clin Invest 103: 147-153, 1999.
13. Gardin JM, Adams DB, Douglas PS, Feigenbaum H, Forst DH, Fraser AG, Grayburn PA, Katz AS, Keller AM, Kerber RE, Khandheria BK, Klein AL, Lang RM, Pierard LA, Quinones MA, Schnittger I. Recommendations for a standardized report for adult transthoracic echocardiography: a report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report. J Am Soc Echocardiogr 15: 275-290, 2002.
14. Gottshall KR, Hunter JJ, Tanaka N, Dalton N, Becker KD, Ross J Jr, Chien KR. Ras-dependent pathways induce obstructive hypertrophy in echo-selected transgenic mice. Proc Natl Acad Sci USA 94: 4710-4715, 1997.
15. Hale DE, Bennett MJ. Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 121: 1-11, 1992.
16. Hauff KD, Hatch GM. Cardiolipin metabolism and Barth Syndrome. Prog Lipid Res 45: 91-101, 2006.
17. Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. Circulation 113: e858-e862, 2006.
18. Lako-Futo Z, Szokodi I, Sarman B, Foldes G, Tokola H, Ilves M, Leskinen H, Vuolteenaho O, Skoumal R, deChatel R, Ruskoaho H, Toth M. Evidence for a functional role of angiotensin II type 2 receptor in the cardiac hypertrophic process in vivo in the rat heart. Circulation 108: 2414-2422, 2003.
19. Li Y, Garson CD, Xu Y, Beyers RJ, Epstein FH, French BA, Hossack JA. Quantification and MRI validation of regional contractile dysfunction in mice post myocardial infarction using high resolution ultrasound. Ultrasound Med Biol 33: 894-904, 2007.
20. Maass A, Leinwand LA. Animal models of hypertrophic cardiomyopathy. Curr Opin Cardiol 15: 189-196, 2000.
21. Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 33: 655-670, 2001.
22. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 287: 1308-1320, 2002.
23. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study Coronary Artery Risk Development in (Young) Adults. Circulation 92: 785-789, 1995.
24. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA 276: 199-204, 1996.
25. Maron MS, Zenovich AG, Casey SA, Link MS, Udelson JE, Aeppli DM, Maron BJ. Significance and relation between magnitude of left ventricular hypertrophy and heart failure symptoms in hypertrophic cardiomyopathy. Am J Cardiol 95: 1329-1333, 2005.
26. Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343, 1999.
27. McConnell BK, Fatkin D, Semsarian C, Jones KA, Georgakopoulos D, Maguire CT, Healey MJ, Mudd JO, Moskowitz IP, Conner DA, Giewat M, Wakimoto H, Berul CI, Schoen FJ, Kass DA, Seidman CE, Seidman JG. Comparison of two murine models of familial hypertrophic cardiomyopathy. Circ Res 88: 383-389, 2001.
28. McKenna W, Deanfield J, Faruqui A, England D, Oakley C, Goodwin J. Prognosis in hypertrophic cardiomyopathy: role of age and clinical, electrocardiographic and hemodynamic features. Am J Cardiol 47: 532-538, 1981.
29. McKenzie M, Lazarou M, Thorburn DR, Ryan MT. Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. J Mol Biol 361: 462-469, 2006.
30. Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 113: 2697-2705, 2006.
31. Neuhaus IM, Beier DR. Efficient localization of mutations by interval haplotype analysis. Mamm Genome 9: 150-154, 1998.
32. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 338: 1248-1257, 1998.
33. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406: 906-910, 2000.
34. Quinlan JG, Hahn HS, Wong BL, Lorenz JN, Wenisch AS, Levin LS. Evolution of the mdx mouse cardiomyopathy: physiological and morphological findings. Neuromuscul Disord 14: 491-496, 2004.
35. Rosenthal J, Mangal V, Walker D, Bennett M, Mohun TJ, Lo CW. Rapid high resolution three dimensional reconstruction of embryos with episcopic fluorescence image capture. Birth Defects Res C Embryo Today 72: 213-223, 2004.
36. Schlame M, Ren M. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett 580: 5450-5455, 2006.
37. Schuler AM, Wood PA. Mouse models for disorders of mitochondrial fatty acid beta-oxidation. ILAR J 43: 57-65, 2002.
38. Skinner JR, Manzoor A, Hayes AM, Joffe HS, Martin RP. A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants. Heart 77: 229-233, 1997.
39. Stanley CA, Hale DE. Genetic disorders of mitochondrial fatty acid oxidation. Curr Opin Pediatr 6: 476-481, 1994.
40. Strujic BJ, Jeren T. Fabry disease-a diagnostic and therapeutic problem. Ren Fail 27: 783-786, 2005.
41. Tein I. Carnitine transport: pathophysiology and metabolism of known molecular defects. J Inherit Metab Dis 26: 147-169, 2003.
42. Towbin JA. Pediatric myocardial disease. Pediatr Clin North Am 46: 289-312, 1999.
43. van Vlies N, Tian L, Overmars H, Bootsma AH, Kulik W, Wanders RJ, Wood PA, Vaz FM. Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse. Biochem J 387: 185-193, 2005.
44. Vikstrom KL, Bohlmeyer T, Factor SM, Leinwand LA. Hypertrophy, pathology, and molecular markers of cardiac pathogenesis. Circ Res 82: 773-778, 1998.
45. Xu Y, Malhotra A, Ren M, Schlame M. The enzymatic function of tafazzin. J Biol Chem 281: 39217-39224, 2006.
46. Yu Q, Shen Y, Chatterjee B, Siegfried BH, Leatherbury L, Rosenthal J, Lucas JF, Wessels A, Spurney CF, Wu YJ, Kirby ML, Svenson K, Lo CW. ENU induced mutations causing congenital cardiovascular anomalies. Development 131: 6211-6223, 2004.