Glycosaminoglycan metabolism defects and atherosclerosis: Frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis

Journal of Inherited Metabolic Disease

Volumn 37, Issue 2, 2014, Pages 255-261

  Yano, Shoji ^a   Moseley, Kathryn ^a   Wong, Lawrence ^a   Castelnovi, Claudia ^a   Azen, Colleen ^a   Pavlova, Zdena ^b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIAL NITRIC OXIDE SYNTHASE; GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; LARONIDASE; NITRIC OXIDE; PROTEOGLYCAN; NOS3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BIOAVAILABILITY; BONE MARROW TRANSPLANTATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY ATHEROSCLEROSIS; CORONARY ARTERY OBSTRUCTION; DISEASE ASSOCIATION; EARLY DIAGNOSIS; ENDOTHELIAL DYSFUNCTION; ENZYME REPLACEMENT; FEMALE; GENETIC DISORDER; GLYCOSAMINOGLYCAN METABOLISM; HUMAN; HUMAN TISSUE; HUNTER SYNDROME; HYPEREMIA; IMMUNOHISTOLOGY; MALE; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; MUCOLIPIDOSIS TYPE 3; MUCOPOLYSACCHARIDOSIS; PRESCHOOL CHILD; REACTIVE HYPEREMIA DIGITAL PERIPHERAL ARTERIAL TONOMETRY; SCHOOL CHILD; TONOMETER; TONOMETRY; ATHEROSCLEROSIS; METABOLISM; MIDDLE AGED; PATHOLOGY; VASCULAR ENDOTHELIUM; YOUNG ADULT;

ADOLESCENT; ADULT; ATHEROSCLEROSIS; CHILD; CHILD, PRESCHOOL; ENDOTHELIUM, VASCULAR; FEMALE; GLYCOSAMINOGLYCANS; HUMANS; MALE; MIDDLE AGED; MUCOPOLYSACCHARIDOSES; NITRIC OXIDE SYNTHASE TYPE III; YOUNG ADULT;

EID: 84898805547     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9642-y     Document Type: Article

References (40)

1. Bonetti PO, Barsness GW, Keelan PC et al (2003) Enhanced external counterpulsation improves endothelial function in patients with symptomatic coronary artery disease. J Am Coll Cardiol 41:1761-1768
2. Braunlin EA, Hunter DW, Krivit W et al (1992) Evaluation of coronary artery disease in the Hurler syndrome by angiography. Am J Cardiol 69(17):1487-1489
3. Braunlin EA, Harmatz PR, Scarpa M et al (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34:1183-1197
4. Brosius FC, Roberts WC (1981) Coronary artery disease in the Hurler syndrome: qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children. Am J Cardiol 47(3):649-653
5. Costa C, Virag R (2009) The endothelial-erectile dysfunction connection: an essential update. J Sex Med 6(9):2390-2404
6. Davignon J, Ganz P (2004) Atherosclerosis: evolving vascular biology and clinical implications. Role of endothelial dysfunction in atherosclerosis. Circulation 109:III-27-III-32
7. Fesslova V, Corti P, Sersale G et al (2009) The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young 2:170-178
8. Flammer AJ, Anderson T, Celermajer DS et al (2012) The assessment of endothelial function: from research into clinical practice. Circulation 126(6):753-767
9. Fogelstand P, Boren J (2012) Retention of atherogenic lipoproteins in the artery wall and its role in atherogenesis. Nutr Metab Cardiovasc 22(1):1-7
10. Hamburg NM, Keyes MJ, Larson MG et al (2008) Cross-Sectional relations of digital vascular function to cardiovascular risk factors in the Framingham Heart Study. Circulation 117(19):2467-2474
11. Harada H, Uchiwa H, Nakamura M et al (2011) Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I. Mol Genet Metab 103(3):215-219
12. Hinek A, Wilson SE (2000) Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 156(3):925-938
13. Honjo O, Ishino K, Kawada M, Ohtsuki S, Sano S (2005) Coarctation of thoraco-abdominalaorta associated with mucopolysacchridosis VII in a child. Ann Thorac Surg 80(2):729-731
14. Huang F, Thompson JC, Wilson PG, Aung HH, Rutledge JC, Tannock LR (2008) AngiotensinII Increases vascular proteoglycan content preceding and contributing to atherosclerosis development. J Lipid Res 49(3):521-530
15. Karnik SK, Brooke BS, Bayes-Genis A et al (2003) A critical role of elastin signaling in vascular morphogenesis and disease. Development 130(2):411-423
16. Kelly AS, Metzig AM, Steinberger J, Braunlin EA (2013) Endothelial function in children and adolescents with mucopolysaccharidosis. J Inherit Metab Dis 36:221-225
17. Krovetz LJ, Lorincz AE, Schiebler GL (1965) Cardiovascular manifestations of the Hurler syndrome: hemodynamic and angiocardiographic observations in 15 patients. Circulation 31:132-141
18. Kuvin JT, Patel AR, Sliney KA et al (2003) Assessment of peripheral vascular endothelial function with finger arterial pulse wave amplitude. Am Heart J146:168-174
19. Lavie P, Shcnall RP, Sheffy J, Shlitner A (2000) Peripheral vasoconstriction during REM sleep detected by a new plethysmographic method. Nat Med 6(6):606
20. Lyons JA, Dickson P, Wall J et al (2011) Arterial pathology in canine Mucopolysaccharidosis-I and response to therapy. Lab Invest 91(5):665-674
21. Ma X, Tittiger M, Knutsen RH et al (2008) Upregulation of elastase proteins results in aortic dilation in mucopolysaccharidosis I mice. Mol Genet Metab 94(3):298-304
22. Matalon R, Dorfman A (1968) The structure of acid mucopolysaccharides produced by hurler fibroblasts in tissue culture. Proc Natl Acad Sci USA 60(1):179-185
23. McCaffrey TA (2000) TGFs and TGF receptors in atherosclerosis. Cytokine Growth Factor Rev 11:103-114
24. Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG (2002) Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 91(7):799-804
25. Natowictz MR, Short MP, Dickersin GR et al (1996) Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med 335:1029-1033
26. Nikitovic D, Katonis P, Tsatsakis A, Karamanos NK, Tzanakakis GN (2008) Lumican, a small leucine-rich proteoglycan. IUBMB Life 60(12):818-823
27. Nohria A, Gerhard-Herman M, Creager MA, Mitra D, Ganz P (2006) Role of nitric oxide in the regulation of digital pulse volume amplitude in humans. J Appl Physiol 101(2):545-548
28. Oemar BS, Tschudi MR, Godoy N, Brovkovich, Malinski T, Lüscher TF (1998) Reduced endothelial nitric oxide synthase expression and production in human atherosclerosis. Circulation 97(25):2494-2498
29. Oudit GY, Butany J, Williams WG, Clarke JTR, Iwanochko RM (2007) Left ventricular aneurysm associated with mucopolysaccharidosis type VI syndrome (Maroteaux-Lamy syndrome). Circulation 115(5):e60-e62
30. Renteria VG, Ferrans VJ, Roberts WC (1976) The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol 38(4):487-501
31. Sartippour MR, Renier G (2000) Upregulation of macrophage lipoprotein lipase in patients with type 2 diabetes: role of peripheral factors. Diabetes 49(4):597-602
32. Saura M, Zaragoza C, Herranz B et al (2005) Nitric oxide regulates transforming growth factor-ß signaling in endothelial cells. Circ Res 97(11):1115-1123
33. Sifuentes M, Doroshow R, Hoft R et al (2007) A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90(2):171-180
34. Sivamurthy KM, Dampier C, MacDermott M, Maureen M, Cahill M, Hsu LL (2009) Peripheral arterial tonometry in assessing endothelial dysfunction in pediatric sickle cell disease. Pediatr Hem Onc 26:589-596
35. Tierney ESS, Newburger JW, Gauvreau K (2009) Endothelial pulse amplitude testing: feasibility and reproducibility in adolescents. J Pediatr 154(6):901-905
36. Venkatesan N, Ouzzine M, Kolb M, Netter P, Ludwig MS (2011) Increased deposition of chondroitin/dermatan sulfate glycosaminoglycan and upregulation of ß1,3glucuronosyltransferase I in pulmonary fibrosis. Am J Physiol Lung Cell Mol Physiol 300(2):L191-L203
37. Vita JA, Treasure CB, Nable EG et al (1990) Coronary vasomotor response to acetylcholine relates to risk factors for coronary artery disease. Circulation 81:491-497
38. Wight TN, Merrilees MJ (2004) Proteoglycans in atherosclerosis and restenosis. Key roles for versican. Circ Res 94:1158-1167
39. Yano S, Moseley K, Pavlova Z (2009) Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis 32(Suppl 1):53-57
40. Yano S, Li C, Pavlova Z (2013) The transforming growth factor-beta signaling pathway involvement in cardiovascular lesions in Mucopolysaccharidosis-I. JIMD Rep 7:55-58