Cardiac manifestations in the mouse model of mucopolysaccharidosis I

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 233-243

  Jordan, Maria C ^a   Zheng, Yi ^a   Ryazantsev, Sergey ^a   Rozengurt, Nora ^a   Roos, Kenneth P ^a   Neufeld, Elizabeth F ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

L Iduronidase; Circadian rhythm; Echocardiography; Electrocardiography; Heart; Hurler; Lysosomal storage; Mucopolysaccharidosis; Ventricular function

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; AORTA VALVE REGURGITATION; AORTA WALL; ARTICLE; BLOOD PRESSURE; BONE MARROW TRANSPLANTATION; CARDIOMEGALY; CELL COUNT; CELL INFILTRATION; CIRCADIAN RHYTHM; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE MODEL; DISEASE SEVERITY; ECG ABNORMALITY; ECHOCARDIOGRAPHY; ELASTIC FIBER; ELECTROCARDIOGRAM; ENDOTHELIUM CELL; ENZYME ACTIVITY; HEART DISEASE; HEART LEFT VENTRICLE FUNCTION; HEART RATE; HEMODYNAMICS; HURLER SYNDROME; IMPLANTATION; INCIDENTAL FINDING; LEYDIG CELL; MALE; MEASUREMENT; MITRAL VALVE REGURGITATION; MOUSE; MUSCLE CELL; NONHUMAN; PRIORITY JOURNAL; SMOOTH MUSCLE; TELEMETRY; VALVULAR HEART DISEASE; WILD TYPE;

ANIMALS; BONE MARROW TRANSPLANTATION; DISEASE MODELS, ANIMAL; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENE THERAPY; GENETIC VECTORS; GLYCOSAMINOGLYCANS; HEART; MICE; MICE, INBRED C57BL; MUCOPOLYSACCHARIDOSIS I; RETROVIRIDAE;

EID: 26244448543     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.05.003     Document Type: Article

References (35)

1. E.F. Neufeld, and J. Muenzer The mucopolysaccharidoses C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Disease 2001 McGraw-Hill New York 3421 3452
2. P.D. Stenson, E.V. Ball, M. Mort, A.D. Phillips, J.A. Shiel, N.S. Thomas, S. Abeysinghe, M. Krawczak, and D.N. Cooper Human gene mutation database (HGMD): 2003 update Hum. Mutat. 21 2003 577 581
3. V.A. McKusick Heritable disorders of connective tissue 1972 Mosby St. Louis
4. R.E. Pyeritz Cardiovascular manifestations of heritable disorders of connective tissue Prog. Med. Genet. 5 1983 191 302
5. J.H. Dangel Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders-clinical and echocardiographic findings in 64 patients Eur. J. Pediatr. 157 1998 534 538
6. T.A. Fischer, H.A. Lehr, U. Nixdorff, and J. Meyer Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome) Heart 81 1999 97 99
7. U.R. Mohan, A.A. Hay, M.A. Cleary, J.E. Wraith, and R.G. Patel Cardiovascular changes in children with mucopolysaccharide disorders Acta. Paediatr. 91 2002 799 804
8. L.J. Krovetz, and G.L. Schiebler Cardiovascular manifestations of the genetic mucopolysaccharidoses Birth Defects Orig. Artic. Ser. 8 1972 192 196
9. V.G. Renteria, V.J. Ferrans, and W.C. Roberts The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases Am. J. Cardiol. 38 1976 487 501
10. D.B. Taylor, S.I. Blaser, P.E. Burrows, D.A. Stringer, J.T. Clarke, and P. Thorner Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis: imaging findings AJR Am. J. Roentgenol. 157 1991 819 823
11. D. Chan, A.M. Li, M.C. Yam, C.K. Li, and T.F. Fok Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure J. Paediatr. Child Health 39 2003 558 559
12. R.M. Shull, R.J. Munger, E. Spellacy, C.W. Hall, G. Constantopoulos, and E.F. Neufeld Canine alpha-l-iduronidase deficiency. A model of mucopolysaccharidosis I Am. J. Pathol. 109 1982 244 248
13. M.E. Haskins, P.F. Jezyk, R.J. Desnick, S.K. McDonough, and D.F. Patterson Alpha-l-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I Pediatr. Res. 13 1979 1294 1297
14. L.A. Clarke, C.S. Russell, S. Pownall, C.L. Warrington, A. Borowski, J.E. Dimmick, J. Toone, and F.R. Jirik Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-l-iduronidase gene Hum. Mol. Genet. 6 1997 503 511
15. C. Russell, G. Hendson, G. Jevon, T. Matlock, J. Yu, M. Aklujkar, K.Y. Ng, and L.A. Clarke Murine MPS I: insights into the pathogenesis of Hurler syndrome Clin. Genet. 53 1998 349 361
16. K. Ohmi, D.S. Greenberg, K.S. Rajavel, S. Ryazantsev, H.H. Li, and E.F. Neufeld Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB Proc. Natl. Acad. Sci. USA 100 2003 1902 1907
17. Y. Zheng, M.C. Jordan, N. Rozengurt, K.P. Roos, and E.F. Neufeld Cardiac manifestations in the mouse model of Hurler syndrome (MPSI) FASEB J. 17 2003 A528
18. Y. Zheng, N. Rozengurt, S. Ryazantsev, D.B. Kohn, N. Satake, and E.F. Neufeld Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow Mol. Genet. Metab. 79 2003 233 244
19. N. Tanaka, N. Dalton, L. Mao, H.A. Rockman, K.L. Peterson, K.R. Gottshall, J.J. Hunter, K.R. Chien, and J. Ross Jr. Transthoracic echocardiography in models of cardiac disease in the mouse Circulation 94 1996 1109 1117
20. M.L. Marro, O.U. Scremin, M.C. Jordan, L. Huynh, F. Porro, K.P. Roos, S. Gajovic, F.E. Baralle, and A.F. Muro Hypertension in beta-adducin-deficient mice Hypertension 36 2000 449 453
21. P.A. Mills, D.A. Huetteman, B.P. Brockway, L.M. Zwiers, A.J. Gelsema, R.S. Schwartz, and K. Kramer A new method for measurement of blood pressure, heart rate, and activity in the mouse by radiotelemetry J. Appl. Physiol. 88 2000 1537 1544
22. J. Gehrmann, P.E. Hammer, C.T. Maguire, H. Wakimoto, J.K. Triedman, and C.I. Berul Phenotypic screening for heart rate variability in the mouse Am. J. Physiol. Heart Circ. Physiol. 279 2000 H733 H740
23. B. London Cardiac arrhythmias: from (transgenic) mice to men J. Cardiovasc. Electrophysiol. 12 2001 1089 1091
24. L. Huynh, O.U. Scremin, M.C. Jordan, and K.P. Roos Rota-rod treadmill exercise enhance murine ventricular mass FASEB J. 15 2001 A793
25. S.E. Leighton, B. Papsin, A. Vellodi, R. Dinwiddie, and R. Lane Disordered breathing during sleep in patients with mucopolysaccharidoses Int. J. Pediatr. Otorhinolaryngol. 58 2001 127 138
26. M.A. Gatzoulis, A. Vellodi, and A.N. Redington Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation Arch. Dis. Child 73 1995 259 260
27. E.A. Braunlin, N.R. Stauffer, C.H. Peters, J.L. Bass, J.M. Berry, J.J. Hopwood, and W. Krivit Usefulness of bone marrow transplantation in the Hurler syndrome Am. J. Cardiol. 92 2003 882 886
28. R.E. Gompf, R.M. Shull, M.A. Breider, J.A. Scott, and G.C. Constantopoulos Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I Am. J. Vet. Res. 51 1990 2054 2060
29. E.D. Kakkis, J. Muenzer, G.E. Tiller, L. Waber, J. Belmont, M. Passage, B. Izykowski, J. Phillips, R. Doroshow, I. Walot, R. Hoft, and E.F. Neufeld Enzyme-replacement therapy in mucopolysaccharidosis I N. Engl. J. Med. 344 2001 182 188
30. J.E. Wraith The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I Expert Opin. Pharmacother. 6 2005 489 506
31. S.D. Hartung, J.L. Frandsen, D. Pan, B.L. Koniar, P. Graupman, R. Gunther, W.C. Low, C.B. Whitley, and R.S. McIvor Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-l-iduronidase gene Mol. Ther. 9 2004 866 875
32. Y. Liu, L. Xu, A.K. Hennig, A. Kovacs, A. Fu, S. Chung, D. Lee, B. Wang, R.S. Herati, and J. Mosinger Ogilvie Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice Mol. Ther. 11 2005 35 47
33. M.M. Sleeper, B. Fornasari, N.M. Ellinwood, M.A. Weil, J. Melniczek, T.M. O'Malley, C.D. Sammarco, L. Xu, K.P. Ponder, and M.E. Haskins Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII Circulation 110 2004 815 820
34. C.D. Domenico, G.R. Villani, D.D. Napoli, E.G. Reyero, A. Lombardo, L. Naldini, and P.D. Natale Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector Hum. Gene Ther. 16 2005 81 90
35. H. Kobayashi, D. Carbonaro, K. Pepper, D. Petersen, S. Ge, H. Jackson, H. Shimada, R. Moats, and D.B. Kohn Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector Mol. Ther. 11 2005 776 789