ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy

Nature Communications

Volumn 6, Issue , 2015, Pages

  Albright, Ronald A ^a   Stabach, Paul ^a   Cao, Wenxiang ^b   Kavanagh, Dillon ^a   Mullen, Isabelle ^a   Braddock, Alexander A ^a   Covo, Mariel S ^a   Tehan, Martin ^a   Yang, Guangxiao ^a   Cheng, Zhiliang ^c   Bouchard, Keith ^c   Yu, Zhao Xue ^c   Thorn, Stephanie ^a   Wang, Xiangning ^a   Folta Stogniew, Ewa J ^a   Negrete, Alejandro ^d   Sinusas, Albert J ^a   Shiloach, Joseph ^d   Zubal, George ^e   Madri, Joseph A ^a   De La Cruz, Enrique M ^b   Braddock, Demetrios T ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY   (United States)

^c National Institutes of Health ^*  (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e Z Concepts LLC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1 FC FUSION PROTEIN; HYBRID PROTEIN; PYROPHOSPHATE; UNCLASSIFIED DRUG; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; IMMUNOGLOBULIN FC FRAGMENT; IMMUNOGLOBULIN G; INORGANIC PYROPHOSPHATASE; PHOSPHODIESTERASE;

BIOMARKER; BIOMINERALIZATION; CALCIFICATION; CONCENTRATION (COMPOSITION); MORTALITY; NEONATE; PHOSPHATE; PROTEIN; RODENT;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AREA UNDER THE CURVE; ARTERY CALCIFICATION; ARTICLE; BLOOD VESSEL CALCIFICATION; CARDIOVASCULAR MORTALITY; CELL VIABILITY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORONARY ARTERY CALCIFICATION; DRUG ABSORPTION; DRUG BLOOD LEVEL; DRUG DESIGN; ELIMINATION HALF-LIFE; GENERALIZED ARTERIAL CALCIFICATION OF INFANCY; GLYCOSYLATION; HEART INFARCTION; HEART MUSCLE FIBROSIS; HUMAN; HUMAN CELL; IN VIVO STUDY; INFANT DISEASE; KIDNEY CALCIFICATION; MAXIMUM PLASMA CONCENTRATION; MEDICAL HISTORY; MOLECULAR WEIGHT; MOUSE; NONHUMAN; SURVIVAL; TIME TO MAXIMUM PLASMA CONCENTRATION; TREATMENT RESPONSE; ANIMAL; ARTERY; C57BL MOUSE; DISEASE MODEL; ENZYMOLOGY; FEMALE; GENETICS; INFANT, NEWBORN, DISEASES; MALE; METABOLISM; MORTALITY; NEWBORN; PATHOLOGY; VASCULAR CALCIFICATION;

ANIMALIA; RODENTIA;

ANIMALS; ARTERIES; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; IMMUNOGLOBULIN FC FRAGMENTS; IMMUNOGLOBULIN G; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; MICE, INBRED C57BL; PHOSPHORIC DIESTER HYDROLASES; PYROPHOSPHATASES; VASCULAR CALCIFICATION;

EID: 84948759664     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms10006     Document Type: Article

References (39)

1. Moran, J. J. Idiopathic arterial calcification of infancy: a clinicopathologic study. Pathol. Annu. 10, 393-417 (1975).
2. Rutsch, F. et al. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ. Cardiovasc. Genet. 1, 133-140 (2008).
3. Otero, J. E. et al. Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. J. Bone Miner. Res. 28, 419-430 (2013).
4. Stuart, G., Wren, C., Bain, H. Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate. Br. Heart J. 64, 156-159 (1990).
5. Stuart, A. G. Idiopathic arterial calcification of infancy and pyrophosphate deficiency. J. Pediatr. 123, 170-171 (1993).
6. Galletti, S. et al. Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1. JIMD Rep. 1, 23-27 (2011).
7. Kalal, I. G., Seetha, D., Panda, A., Nitschke, Y., Rutsch, F. Molecular diagnosis of generalized arterial calcification of infancy (GACI). J. Cardiovasc. Dis. Res. 3, 150-154 (2012).
8. Chong, C. R., Hutchins, G. M. Idiopathic infantile arterial calcification: the spectrum of clinical presentations. Pediatr. Dev. Pathol. 11, 405-415 (2008).
9. Ferreira, C., Ziegler, S., Gahl, W. in GeneReviewss (eds Paragon, R. A. et al.) 34 (University of Washington, 2014).
10. Bryant, J., White, W. A case of calcification of the arteries and obliterative endarteritis, associated with hydronephrosis, in a child aged six months. Guy's Hosp Rep. 55, 17-28 (1901).
11. Rutsch, F. et al. PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am. J. Pathol. 158, 543-554 (2001).
12. Bollen, M., Gijsbers, R., Ceulemans, H., Stalmans, W., Stefan, C. Nucleotide pyrophosphatases/phosphodiesterases on the move. Crit. Rev. Biochem. Mol. Biol. 35, 393-432 (2000).
13. Harahap, A. R., Goding, J. W. Distribution of the murine plasma cell antigen PC-1 in non-lymphoid tissues. J. Immunol. 141, 2317-2320 (1988).
14. Terkeltaub, R. Physiologic and pathologic functions of the NPP nucleotide pyrophosphatase/phosphodiesterase family focusing on NPP1 in calcification. Purinergic Signal. 2, 371-377 (2006).
15. Addison, W. N., Azari, F., Sorensen, E. S., Kaartinen, M. T., McKee, M. D. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity. J. Biol. Chem. 282, 15872-15883 (2007).
16. Rutsch, F. et al. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat. Genet. 34, 379-381 (2003).
17. Sakata, S., Su, J. C., Robertson, S., Yin, M., Chow, C. W. Varied presentations of pseudoxanthoma elasticum in a family. J. Paediatr.Child H. 42, 817-820 (2006).
18. Le Boulanger, G. et al. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am. J. Med. Genet. A 152A, 118-123 (2010).
19. Bertrand, J. et al. Decreased levels of nucleotide pyrophosphatase phosphodiesterase 1 are associated with cartilage calcification in osteoarthritis and trigger osteoarthritic changes in mice. Ann. Rheum. Dis. 71, 1249-1253 (2012).
20. Li, Q., Schumacher, W., Jablonski, D., Siegel, D., Uitto, J. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br. J. Dermatol. 166, 1107-1111 (2012).
21. Li, Q. et al. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J. Invest. Dermatol. 134, 658-665 (2014).
22. Nitschke, Y. et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am. J. Hum. Genet. 90, 25-39 (2012).
23. Jansen, R. S. et al. ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proc. Natl Acad. Sci. USA 110, 20206-20211 (2013).
24. Li, Q. et al. Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. Dis. Model Mech. 6, 1227-1235 (2013).
25. Li, Q., Chou, D. W., Price, T. P., Sundberg, J. P., Uitto, J. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. Lab. Invest. 94, 623-632 (2014).
26. Albright, R. A. et al. The molecular basis of purinergic signal metabolism by ecto-nucleotide pyrophosphatase/phosphodiesterases 4 and 1 and implications in stroke. J. Biol. Chem. 289, 3294-3306 (2013).
27. Folta-Stogniew, E. Oligomeric states of proteins determined by size-exclusion chromatography coupled with light scattering, absorbance, and refractive index detectors. Methods Mol. Biol. 328, 97-112 (2006).
28. Arakawa, T., Langley, K. E., Kameyama, K., Takagi, T. Molecular weights of glycosylated and nonglycosylated forms of recombinant human stem cell factor determined by low-angle laser light scattering. Anal. Biochem. 203, 53-57 (1992).
29. Hayashi, Y., Matsui, H., Takagi, T. Membrane protein molecular weight determined by low-angle laser light-scattering photometry coupled with high-performance gel chromatography. Methods Enzymol. 172, 514-528 (1989).
30. Merino, J. et al. Autoimmune syndrome after induction of neonatal tolerance to alloantigens: effects of in vivo treatment with anti-T cell subset monoclonal antibodies. J. Immunol. 139, 1426-1431 (1987).
31. Lomashvili, K. A., Narisawa, S., Millan, J. L., O'Neill, W. C. Vascular calcification is dependent on plasma levels of pyrophosphate. Kidney Int. 85, 1351-1356 (2014).
32. O'Neill, W. C., Sigrist, M. K., McIntyre, C. W. Plasma pyrophosphate and vascular calcification in chronic kidney disease. Nephrol. Dial. Transplant 25, 187-191 (2010).
33. O'Neill, W. C., Lomashvili, K. A., Malluche, H. H., Faugere, M. C., Riser, B. L. Treatment with pyrophosphate inhibits uremic vascular calcification. Kidney Int. 79, 512-517 (2011).
34. Lomashvili, K. A., Monier-Faugere, M. C., Wang, X., Malluche, H. H., O'Neill, W. C. Effect of bisphosphonates on vascular calcification and bone metabolism in experimental renal failure. Kidney Int. 75, 617-625 (2009).
35. Xiao, S., White, J. F., Betenbaugh, M. J., Grisshammer, R., Shiloach, J. Transient and stable expression of the neurotensin receptor NTS1: a comparison of the baculovirus-insect cell and the T-REx-293 expression systems. PloS One 8, e63679 (2013).
36. Albright, R. A. et al. NPP4 is a procoagulant enzyme on the surface of vascular endothelium. Blood 120, 4432-4440 (2012).
37. Cheung, C. P., Suhadolnik, R. J. Analysis of inorganic pyrophosphate at the picomole level. Anal. Biochem. 83, 61-63 (1977).
38. Dobrucki, L. W. et al. Serial noninvasive targeted imaging of peripheral angiogenesis: validation and application of a semiautomated quantitative approach. J. Nucl. Med.e 50, 1356-1363 (2009).
39. Cao, W., De La Cruz, E. M. Quantitative full time course analysis of nonlinear enzyme cycling kinetics. Sci. Rep. 3, 2658 (2013).