Skip to main content
PMC home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1975 Apr;72(4):1314–1316. doi: 10.1073/pnas.72.4.1314

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

F M Pope, G R Martin, J R Lichtenstein, R Penttinen, B Gerson, D W Rowe, V A McKusick
PMCID: PMC432523  PMID: 1055406

Abstract

One of the genetically distinct collagens (type III) normally found in skin, aorta, and intestine is missing from the tissues of patients with the Ehlers-Danlos syndrome type IV. While skin fibroblasts from other individuals synthesize both types I and III collagen. Ehlers-Danlos syndrome IV cells synthesize only type I. These results suggest that the fragile skin, blood vessels, and intestines of Ehlers-Danlos syndrome IV patients result from an absence of type III collagen.

Full text

PDF
1314

Images in this article

1315Image
on p.1315

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chung E., Keele E. M., Miller E. J. Isolation and characterization of the cyanogen bromide peptides from the alpha 1(3) chain of human collagen. Biochemistry. 1974 Aug 13;13(17):3459–3464. doi: 10.1021/bi00714a006. [DOI] [PubMed] [Google Scholar]
  2. Chung E., Miller E. J. Collagen polymorphism: characterization of molecules with the chain composition (alpha 1 (3)03 in human tissues. Science. 1974 Mar;183(130):1200–1201. doi: 10.1126/science.183.4130.1200. [DOI] [PubMed] [Google Scholar]
  3. Church R. L., Tanzer M. L., Lapiere C. M. Identification of two distinct species of procollagen synthesized by a clonal line of calf dermatosparactic cells. Nat New Biol. 1973 Aug 8;244(136):188–190. doi: 10.1038/newbio244188a0. [DOI] [PubMed] [Google Scholar]
  4. Epstein E. H., Jr (Alpha1(3))3 human skin collagen. Release by pepsin digestion and preponderance in fetal life. J Biol Chem. 1974 May 25;249(10):3225–3231. [PubMed] [Google Scholar]
  5. Furthmayr H., Timpl R. Characterization of collagen peptides by sodium dodecylsulfate-polyacrylamide electrophoresis. Anal Biochem. 1971 Jun;41(2):510–516. doi: 10.1016/0003-2697(71)90173-4. [DOI] [PubMed] [Google Scholar]
  6. Layman D. L., McGoodwin E. B., Martin G. R. The nature of the collagen synthesized by cultured human fibroblasts. Proc Natl Acad Sci U S A. 1971 Feb;68(2):454–458. doi: 10.1073/pnas.68.2.454. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Lichtenstein J. R., Martin G. R., Kohn L. D., Byers P. H., McKusick V. A. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science. 1973 Oct 19;182(4109):298–300. doi: 10.1126/science.182.4109.298. [DOI] [PubMed] [Google Scholar]
  8. Miller E. J., Epstein E. H., Jr, Piez K. A. Identification of three genetically distinct collagens by cyanogen bromide cleavage of insoluble human skin and cartilage collagen. Biochem Biophys Res Commun. 1971 Mar 19;42(6):1024–1029. doi: 10.1016/0006-291x(71)90006-4. [DOI] [PubMed] [Google Scholar]
  9. Miller E. J., Piez K. A. An accelerated single-column procedure for the automatic analysis of amino acids in collagen and elastin hydrolyzates. Anal Biochem. 1966 Aug;16(2):320–326. doi: 10.1016/0003-2697(66)90161-8. [DOI] [PubMed] [Google Scholar]
  10. Penttinen R. P., Lichtenstein J. R., Martin G. R., McKusick V. A. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1975 Feb;72(2):586–589. doi: 10.1073/pnas.72.2.586. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Pinnell S. R., Krane S. M., Kenzora J. E., Glimcher M. J. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med. 1972 May 11;286(19):1013–1020. doi: 10.1056/NEJM197205112861901. [DOI] [PubMed] [Google Scholar]
  12. Smith B. D., Byers P. H., Martin G. R. Production of procollagen by human fibroblasts in culture. Proc Natl Acad Sci U S A. 1972 Nov;69(11):3260–3262. doi: 10.1073/pnas.69.11.3260. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Sussman M., Lichtenstein J. R., Nigra T. P., Martin G. R., McKusick V. A. Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome. J Bone Joint Surg Am. 1974 Sep;56(6):1228–1234. [PubMed] [Google Scholar]
  14. Trelstad R. L. Human aorta collagens: evidence for three distinct species. Biochem Biophys Res Commun. 1974 Apr 8;57(3):717–725. doi: 10.1016/0006-291x(74)90605-6. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES