Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2017, Article ID 5809787, 9 pages
https://doi.org/10.1155/2017/5809787
Research Article

Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation

Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China

Correspondence should be addressed to Yongxin Ma; moc.liamg@nixgnoyam

Received 19 February 2017; Accepted 11 July 2017; Published 27 August 2017

Academic Editor: Limei Qiu

Copyright © 2017 Chongjuan Gu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. McKeand, J. Rotta, and J. T. Hecht, “Natural history study of pseudoachondroplasia,” American Journal of Medical Genetics, vol. 63, no. 2, pp. 406–410, 1996. View at Publisher · View at Google Scholar · View at Scopus
  2. M. D. Briggs and K. L. Chapman, “Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations,” Human Mutation, vol. 19, no. 5, pp. 465–478, 2002. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Unger and J. T. Hecht, “Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments,” American Journal of Medical Genetics - Seminars in Medical Genetics, vol. 106, no. 4, pp. 244–250, 2002. View at Publisher · View at Google Scholar · View at Scopus
  4. M. D. Briggs, S. M. G. Huffman, L. M. King et al., “Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene,” Nature Genetics, vol. 10, no. 3, pp. 330–336, 1995. View at Publisher · View at Google Scholar · View at Scopus
  5. J. T. Hecht, L. D. Nelson, E. Crowder et al., “Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia,” Nature Genetics, vol. 10, no. 3, pp. 325–329, 1995. View at Publisher · View at Google Scholar · View at Scopus
  6. J. Loughlin, C. Irven, Z. Mustafa et al., “Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia,” Human Mutation, vol. 11, no. 1, pp. S10–S17, 1998. View at Publisher · View at Google Scholar · View at Scopus
  7. G. Muller, A. Michel, and E. Altenburg, “COMP (cartilage oligomeric matrix protein) is synthesized in ligament, tendon, meniscus, and articular cartilage,” Connective Tissue Research, vol. 39, no. 4, pp. 233–244, 1998. View at Publisher · View at Google Scholar · View at Scopus
  8. K. Tan and J. Lawler, “The interaction of Thrombospondins with extracellular matrix proteins,” Journal of Cell Communication and Signaling, vol. 3, no. 3-4, pp. 177–187, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. J. C. Adams, R. P. Tucker, and J. Lawler, The Thrombospondin Gene Family, R.G. Landes Co, Austin, Tex., U.S.A, 1995.
  10. C. B. Carlson, J. Lawler, and D. F. Mosher, “Structures of thrombospondins,” Cellular and molecular life sciences : CMLS, vol. 65, no. 5, pp. 672–686, 2008. View at Google Scholar · View at Scopus
  11. G. C. Jackson, L. Mittaz-Cretto, J. A. Taylor et al., “Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution,” Human Mutation, vol. 33, no. 1, pp. 144–157, 2012. View at Publisher · View at Google Scholar · View at Scopus
  12. M. D. Briggs, J. Brock, S. C. Ramsden, and P. A. Bell, “Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias,” European Journal of Human Genetics, vol. 22, no. 11, pp. 1278–1282, 2014. View at Publisher · View at Google Scholar · View at Scopus
  13. B. Newman and M. D. Briggs, “Molecular diagnosis is important to confirm suspected pseudoachondroplasia,” Journal of Medical Genetics, vol. 37, no. 1, pp. 64-65, 2000. View at Publisher · View at Google Scholar · View at Scopus
  14. A. Mabuchi, S. Momohara, H. Ohashi et al., “Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations,” American Journal of Medical Genetics, vol. 129, no. 1, pp. 35–38, 2004. View at Publisher · View at Google Scholar · View at Scopus
  15. A. C. Tufan, N. L. Satiroglu-Tufan, G. C. Jackson, C. N. Semerci, S. Solak, and B. Yagci, “Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family,” European Journal of Human Genetics, vol. 15, no. 10, pp. 1023–1028, 2007. View at Publisher · View at Google Scholar · View at Scopus
  16. K. Halasz, A. Kassner, M. Morgelin, and D. Heinegard, “COMP acts as a catalyst in collagen fibrillogenesis,” The Journal of Biological Chemistry, vol. 282, no. 43, pp. 31166–31173, 2007. View at Publisher · View at Google Scholar · View at Scopus
  17. X. Tang, Z. Zhou, B. Shen et al., “Serum levels of TNF-α, IL-1β, COMP, and CTX-II in patients with Kashin-Beck disease in Sichuan, China,” Rheumatology International, vol. 32, no. 11, pp. 3503–3509, 2012. View at Publisher · View at Google Scholar · View at Scopus
  18. K. Tan, M. Duquette, A. Joachimiak, and J. Lawler, “The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding,” The FASEB Journal, vol. 23, no. 8, pp. 2490–2501, 2009. View at Publisher · View at Google Scholar · View at Scopus
  19. T. Schwede, J. Kopp, N. Guex, and M. C. Peitsch, “SWISS-MODEL: an automated protein homology-modeling server,” Nucleic Acids Research, vol. 31, no. 13, pp. 3381–3385, 2003. View at Publisher · View at Google Scholar · View at Scopus
  20. K. Arnold, L. Bordoli, J. Kopp, and T. Schwede, “The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling,” Bioinformatics, vol. 22, no. 2, pp. 195–201, 2006. View at Publisher · View at Google Scholar · View at Scopus
  21. R. R. Cooper, I. V. Ponseti, and J. A. Maynard, “Pseudoachondroplastic dwarfism. a rough-surfaced endoplasmic reticulum storage disorder,” Journal of Bone and Joint Surgery - Series A, vol. 55, no. 3, pp. 475–484, 1973. View at Publisher · View at Google Scholar · View at Scopus
  22. J. Hecht, E. Hayes, M. Snuggs et al., “Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes,” Matrix Biology, vol. 20, no. 4, pp. 251–262, 2001. View at Publisher · View at Google Scholar · View at Scopus
  23. M. Schmitz, A. Niehoff, N. Miosge, N. Smyth, M. Paulsson, and F. Zaucke, “Transgenic mice expressing D469Δ mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations,” Matrix Biology, vol. 27, no. 2, pp. 67–85, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. T. M. Merritt, J. L. Alcorn, R. Haynes, and J. T. Hecht, “Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype,” Journal of Orthopaedic Research, vol. 24, no. 4, pp. 700–707, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. C. B. Carlson, D. A. Bernstein, D. S. Annis et al., “Structure of the calcium-rich signature domain of human thrombospondin-2,” Nature Structural & Molecular Biology, vol. 12, no. 10, pp. 910–914, 2005. View at Google Scholar
  26. T.-L. L. Chen, K. L. Posey, J. T. Hecht, and B. M. Vertel, “COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes,” Journal of Cellular Biochemistry, vol. 103, no. 3, pp. 778–787, 2008. View at Publisher · View at Google Scholar · View at Scopus
  27. M. Schmitz, A. Becker, A. Schmitz et al., “Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion,” Journal of Biological Chemistry, vol. 281, no. 43, pp. 32587–32595, 2006. View at Publisher · View at Google Scholar · View at Scopus
  28. U. Hansen, N. Platz, A. Becker, P. Bruckner, M. Paulsson, and F. Zaucke, “A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis,” Arthritis and Rheumatism, vol. 63, no. 1, pp. 159–167, 2011. View at Publisher · View at Google Scholar · View at Scopus