Effects of neonatal enzyme replacement therapy and simvastatin treatment on cervical spine disease in mucopolysaccharidosis I dogs

Journal of Bone and Mineral Research

Volumn 29, Issue 12, 2014, Pages 2610-2617

  Chiaro, Joseph A ^a   O'Donnell, Patricia ^b   Shore, Eileen M ^a   Malhotra, Neil R ^a   Ponder, Katherine P ^c   Haskins, Mark E ^b   Smith, Lachlan J ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA SCHOOL OF VETERINARY MEDICINE   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Canine model; Hurler syndrome; Intervertebral disc; Lysosomal storage disease; Odontoid process; Vertebral bone

Indexed keywords

RECOMBINANT ENZYME; SIMVASTATIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LEVO IDURONIDASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE ATROPHY; BONE DENSITY; BONE MASS; CERVICAL SPINE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE COURSE; ENCHONDRAL OSSIFICATION; ENZYME REPLACEMENT; EPIPHYSEAL CARTILAGE; EUTHANASIA; EXPERIMENTAL DOG; GROWTH PLATE; HISTOPATHOLOGY; HURLER SYNDROME; HYPOPLASIA; INTERVERTEBRAL DISK; INTERVERTEBRAL DISK DEGENERATION; INTERVERTEBRAL DISK DISEASE; LABORATORY; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ODONTOID PROCESS; SPINAL CORD COMPRESSION; SPINE DISEASE; TRABECULAR BONE; ANIMAL; DISEASE MODEL; DOG; DOG DISEASES; FEMALE; INTERVERTEBRAL DISC DEGENERATION; MALE; METABOLISM; MUCOPOLYSACCHARIDOSIS I; PATHOLOGY; VETERINARY;

ANIMALS; DISEASE MODELS, ANIMAL; DOG DISEASES; DOGS; ENZYME REPLACEMENT THERAPY; FEMALE; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; IDURONIDASE; INTERVERTEBRAL DISC DEGENERATION; MALE; MUCOPOLYSACCHARIDOSIS I; SIMVASTATIN;

EID: 84918533051     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2290     Document Type: Article

References (44)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, SlyWS, Valle D, editors. Themetabolic andmolecular bases of inherited disease. 8th ed. New York: McGraw-Hill; p. 3421-52. 2001.
2. Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical, and biological implications. Hum Mutat. 1995;6(4): 288-302.
3. Tandon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996;78(6): 938-44.
4. White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5): V26-33.
5. Arn P, Wraith JE, Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: Findings from the MPS I Registry. J Pediatr. 2009;154(6): 859-64.
6. Kachur E, Del Maestro R. Mucopolysaccharidoses and spinal cord compression: Case report and review of the literature with implications of bone marrow transplantation. Neurosurgery. 2000;47(1): 223-8; discussion 228-9.
7. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: Long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004;24(1): 97-101.
8. Yasin MN, Sacho R, Oxborrow NJ, Wraith JE, Williamson JB, Siddique I. Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (hurler syndrome). Spine (Phila Pa 1976). 2014;39(5): 381-7.
9. Belani KG, Krivit W, Carpenter BL, et al. Children with mucopolysaccharidosis: Perioperative care, morbidity, mortality, and new findings. J Pediatr Surg. 1993;28(3): 403-8; discussion 408-10.
10. Hite SH, Peters C, Krivit W. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr Radiol. 2000;30(7): 464-70.
11. Miebach E, Church H, Cooper A, et al. The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome). J Inherit Metab Dis. 2011;34(3): 755-61.
12. Thomas SL, Childress MH, Quinton B. Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome. Pediatr Radiol. 1985;15(5): 353-4.
13. Chiaro JA, Baron MD, Del Alcazar CM, et al. Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs. Bone. 2013;55(1): 78-83.
14. Dickson PI, Hanson S, McEntee MF, et al. Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. Mol Genet Metab. 2010;101(2-3): 115-22.
15. Clarke LA. Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: Glycosaminoglycan storage is merely the instigator. Rheumatology. 2011;50(Suppl 5): V13-8.
16. del Alcazar CM, Chiaro JA, Shore EM, Haskins ME, Smith LJ. Delayed chondrocyte differentiation and altered Indian Hedgehog signaling contribute to failed vertebral bone formation in mucopolysaccharidosis VII. [Podium session presented at: Annual Meeting Orthopaedic Research Society (ORS); 2014 March 15-18; New Orleans, LA, USA; Poster Number: 0255]. Available from: Http://www.ors.org/Transactions/ 60/0255.pdf.
17. Oussoren E, Brands MM, Ruijter GJ, der Ploeg AT, Reuser AJ. Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options. Biochimica Biophysica Acta. 2011;1812(11): 1542-56.
18. Lai A, Simonaro CM, Schuchman EH, Ge Y, Laudier DM, Iatridis JC. Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux- Lamy syndrome). J Orthop Res. 2013;31(4): 621-31.
19. Smith LJ, Baldo G, Wu S, et al. Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII. Mol Genet Metab. 2012;107(1-2): 153-60.
20. Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: Identification of new therapeutic targets and biomarkers using animal models. Pediat Res. 2005;57(5 Pt 1): 701-7.
21. Simonaro CM, Ge Y, Eliyahu E, He X, Jepsen KJ, Schuchman EH. Involvement of the Toll-like receptor 4 pathway and use of TNF-αlpha antagonists for treatment of the mucopolysaccharidoses. Proc Natl Acad Sci U S A. 2010;107(1): 222-7.
22. Herati RS, Knox VW, O'Donnell P, D'Angelo M, Haskins ME, Ponder KP. Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab. 2008;95(3): 142-51.
23. Smith LJ, Martin JT, O'Donnell P, et al. Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs. Mol Genet Metab. 2012;107(1-2): 145-52.
24. Laraway S, Breen C, Mercer J, Jones S, Wraith JE. Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings. Mol Genet Metab. 2013;109(3): 315-6.
25. Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2): 63-72.
26. Schuchman EH, Ge Y, Lai A, et al. Pentosan polysulfate: A novel therapy for the mucopolysaccharidoses. PLoS One. 2013;8(1): E54459.
27. Hodgkinson CP, Ye S. Statins inhibit Toll-like receptor 4-mediated lipopolysaccharide signaling and cytokine expression. Pharmacogenet Genomics. 2008;18(9): 803-13.
28. Methe H, Kim JO, Kofler S, Nabauer M, Weis M. Statins decrease Toll-like receptor 4 expression and downstream signaling in human CD14+ monocytes. Arterioscler Thromb Vasc Biol. 2005;25(7): 1439-45.
29. Mundy G, Garrett R, Harris S, et al. Stimulation of bone formation in vitro and in rodents by statins. Science. 1999;286(5446): 1946-9.
30. Chen PY, Sun JS, Tsuang YH, Chen MH, Weng PW, Lin FH. Simvastatin promotes osteoblast viability and differentiation via Ras/Smad/Erk/ BMP-2 signaling pathway. Nutr Res. 2010;30(3): 191-9.
31. Haskins M, Casal M, Ellinwood NM, Melniczek J, Mazrier H, Giger U. Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr Suppl. 2002;91(439): 88-97.
32. Menon KP, Tieu PT, Neufeld EF. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics. 1992;14(3): 763-8.
33. Spellacy E, Shull RM, Constantopoulos G, Neufeld EF. A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A. 1983;80(19): 6091-5.
34. Constantopoulos G, Shull RM, Hastings N, Neufeld EF. Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I). J Neurochem. 1985;45(4): 1213-7.
35. Shull RM, Helman RG, Spellacy E, Constantopoulos G, Munger RJ, Neufeld EF. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol. 1984;114(3): 487-95.
36. Shull RM, Walker MA. Radiographic findings in a canine model of mucopolysaccharidosis I. Changes associated with bone marrow transplantation. Invest Radiol. 1988;23(2): 124-30.
37. Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebocontrolled, multinational study of recombinant human alpha-Liduronidase (laronidase). J Pediatr. 2004;144(5): 581-8.
38. Plosker GL, McTavish D. Simvastatin. A reappraisal of its pharmacology and therapeutic efficacy in hypercholesterolaemia. Drugs. 1995;50(2): 334-63.
39. Pfirrmann CW, Metzdorf A, Zanetti M, Hodler J, Boos N. Magnetic resonance classification of lumbar intervertebral disc degeneration. Spine (Phila Pa 1976). 2001;26(17): 1873-8.
40. Martin JT, Gorth DJ, Beattie EE, Harfe BD, Smith LJ, Elliott DM. Needle puncture injury causes acute and long-term mechanical deficiency in a mouse model of intervertebral disc degeneration. J Orthop Res. 2013;31(8): 1276-82.
41. Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL. Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone. 1997;21(5): 425-31.
42. Altman AR, Tseng WJ, de Bakker CM, et al. A closer look at the immediate trabecula response to combined parathyroid hormone and alendronate treatment. Bone. 2014;61C: 149-57.
43. Zhang Y, Bradley AD, Wang D, Reinhardt RA. Statins, bone metabolism and treatment of bone catabolic diseases. Pharmacol Res. Forthcoming. Epub. 2014 Jan7. DOI: 10.1016/j.phrs.2013.12.009.
44. Bowers JR, Dailiana ZH, McCarthy EF, Urbaniak JR. Drug therapy increases bone density in osteonecrosis of the femoral head in canines. J Surg Orthop Adv. 2004;13(4): 210-6.