Novel arterial pathology in mice and humans hemizygous for elastin

Journal of Clinical Investigation

Volumn 102, Issue 10, 1998, Pages 1783-1787

  Li, Dean Y ^a,g   Faury, Gilles ^d   Taylor, Douglas G ^b   Davis, Elaine C ^e   Boyle, Walter A ^d   Mecham, Robert P ^d   Stenzel, Peter ^f   Boak, Beth ^c   Keating, Mark T ^b,c  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g UNIVERSITY OF UTAH   (United States)

Author keywords

Cardiovascular models; Compliance; Elastin; Mice, transgenic; Vascular disease

Indexed keywords

ELASTIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTERY COMPLIANCE; ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; HISTOPATHOLOGY; MOUSE; NONHUMAN; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; THORACIC AORTA;

EID: 0032533870     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI4487     Document Type: Article

References (26)

1. Ross, R. 1993. The pathogenesis of atherosclerosis: a perspective for the 1990s. Nature. 362:801-809.
2. Ewart, A.K., C.A. Morris, D. Atkinson, W. Jin, K. Sternes, P. Spallone, A.D. Stock, M. Leppert, and M.T. Keating. 1993. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat. Genet. 5:11-16.
3. Curran, M., D. Atkinson, A. Ewart, C. Morris, M. Leppert, and M.T. Keating. 1993. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 73:159-168.
4. Ewart, A., W. Jin, D. Atkinson, C. Morris, and M.T. Keating. 1994. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest. 93:1071-1077.
5. Olson, T.M., V.V. Michels, Z. Urban, K. Csiszar, A.M. Christiano, D.J. Driscoll, R.H. Feldt, C.D. Boyd, and S.N. Thibodeau. 1995. A 30kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum. Mol. Genet. 4:1677-1679.
6. Li, D.Y., A.E. Toland, B.B. Boak, D.L. Atkinson, G.J. Ensing, C.A. Morris, and M.T. Keating. 1997. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum. Mol. Genet. 6:1021-1028.
7. Lohler, J., R. Timpl, and R. Jaenisch. 1984. Embryonic lethal mutation in mouse collagen I gene causes rupture of blood vessels and is associated with erythropoietic and mesenchymal cell death. Cell. 38:597-607.
8. Dietz, H.C., and R.E. Pyeritz. 1995. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum. Mol. Genet. 4:1799-1809.
9. Parks, W.C., R.A. Pierce, K.A. Lee, and R.P. Mecham. 1993. Elastin. Adv. Mol. Cell. Biol. 6:133-182.
10. Katoh, Y., and M. Periasamy. 1996. Growth and differentiation of smooth muscle cells during vascular development. Trends Cardiovasc. Med. 6: 100-106.
11. Wolinsky, H., and S. Glagov, 1967. A lamellar unit of aortic medial structure and function in mammals. Circ. Res. 20:99-111.
12. O'Connor, W. 1985. Supravalvular aortic stenosis: clinical and pathologic observations in six patients. Arch. Pathol. Lab. Med. 109:179-185.
13. Perou, M. 1961. Congenital supravalvular aortic stenosis. Arch. Pathol. Lab. Med. 71:113-126.
14. Davis, E.C. 1995. Elastic lamina growth in the developing mouse aorta. J. Histochem. Cytochem. 43:1115-1123.
15. Boyle, W.A., and G.M. Maher. 1995. Endothelium-independent vasoconstricting and vasodilating actions of halothane on rat mesenteric resistance blood vessels. Anesthesiology. 82:221-235.
16. Milnor, W.R. 1990. Cardiovascular Physiology. Oxford University Press, New York. 550 pp.
17. Li, D.Y., B. Brooke, E.C. Davis, R.P. Mecham, L.K. Sorensen, B.B. Boak, E. Eichwald, and M.T. Keating. 1998. Elastin is an essential determinant of arterial morphogenesis. Nature. 393:276-280.
18. Svendsen, U.G., C.M. Koch, and B. Rubin. 1979. Genetic control of the spontaneous hypertension in the NZB/Cr strain of mice. Immunogenetic considerations. APMIS. 87:269-273.
19. Davis, E.C. 1993. Smooth muscle cell to elastic lamina connections in developing mouse aorta. Role in aortic medial organization. Lab. Invest. 68:89-99.
20. Machii, M., and A.E. Becker. 1997. Hypoplastic aortic arch morphology pertinent to growth after surgical correction of aortic coarctation. Ann. Thorac. Surg. 64:516-520
21. Wolinsky, H., and S. Glagov. 1964. Structural basis for the static mechanical properties of the aortic media. Circulation. 14:400-413.
22. Churg, J., and M.H. Goldstein. 1995. Pathologic aspects of hypertension. In Vascular Pathology. W.E. Stehbens and J.T. Lie, editors. Chapman and Hall, London. 571-580.
23. Vijayakumar, S.T., and P.A. Kurup. 1974. Hypervitaminosis D and glycosaminoglycan metabolism in rats fed normal and high fat cholesterol diets. J. Nutr. 104:423-429.
24. Hinek, A., M.D. Botney, and R.P. Mecham. 1991. Inhibition of tropoelastin expression by 1,2 dihydroxyvitamin D3. Connect. Tissue Res. 26:155-166.
25. Friedman, W.F., and W.C. Roberts. 1966. Vitamin D and supravalvular aortic stenosis syndrome. Circulation. 34:77-86.
26. Chan, G.M., J.J. Buchino, D. Mehlhorn, K.E. Bove, J.J. Steichen, and R.C. Tsang. 1979. Effect of vitamin D on pregnant rabbits and their offspring. Pediatr. Res. 13:121-126.