The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia

B. Kerry Maddox, Douglas R. Keene, Lynn Sakai, Noé L. Charbonneau, Nicholas P. Morris, Catherine C. Ridgway, Bruce A. Boswell, Michael D. Sussman, William A. Horton, Hans Peter Bächinger, Jacqueline T. Hecht

Research output: Contribution to journalArticle

87 Citations (Scopus)

Abstract

We have identified a novel missense mutation in a pseudoachondroplasia (PSACH) patient in one of the type III repeats of cartilage oligomeric matrix protein (COMP). Enlarged lamellar rough endoplasmic reticulum vesicles were shown to contain accumulated COMP along with type IX collagen, a cartilage- specific component. COMP was secreted and assembled normally into the extracellular matrix of tendon, demonstrating that the accumulation of COMP in chondrocytes was a cell-specific phenomenon. We believe that the intracellular storage of COMP causes a nonspecific aggregation of cartilage- specific molecules and results in a cartilage matrix deficient in required structural components leading to impaired cartilage growth and maintenance. These data support a common pathogenetic mechanism behind two clinically related chondrodysplasias, PSACH and multiple epiphyseal dysplasia.

Original languageEnglish (US)
Pages (from-to)30993-30997
Number of pages5
JournalJournal of Biological Chemistry
Volume272
Issue number49
DOIs
StatePublished - Dec 5 1997

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Cartilage Oligomeric Matrix Protein
Cartilage
Mutation
Collagen Type IX
Enchondromatosis
Osteochondrodysplasias
Rough Endoplasmic Reticulum
Tendons
Missense Mutation
Chondrocytes
Extracellular Matrix
Agglomeration
Maintenance
Pseudoachondroplasia
Molecules
Growth

ASJC Scopus subject areas

  • Biochemistry

Cite this

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. / Maddox, B. Kerry; Keene, Douglas R.; Sakai, Lynn; Charbonneau, Noé L.; Morris, Nicholas P.; Ridgway, Catherine C.; Boswell, Bruce A.; Sussman, Michael D.; Horton, William A.; Bächinger, Hans Peter; Hecht, Jacqueline T.

In: Journal of Biological Chemistry, Vol. 272, No. 49, 05.12.1997, p. 30993-30997.

Research output: Contribution to journalArticle

Maddox, BK, Keene, DR, Sakai, L, Charbonneau, NL, Morris, NP, Ridgway, CC, Boswell, BA, Sussman, MD, Horton, WA, Bächinger, HP & Hecht, JT 1997, 'The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia', Journal of Biological Chemistry, vol. 272, no. 49, pp. 30993-30997. https://doi.org/10.1074/jbc.272.49.30993
Maddox, B. Kerry ; Keene, Douglas R. ; Sakai, Lynn ; Charbonneau, Noé L. ; Morris, Nicholas P. ; Ridgway, Catherine C. ; Boswell, Bruce A. ; Sussman, Michael D. ; Horton, William A. ; Bächinger, Hans Peter ; Hecht, Jacqueline T. / The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. In: Journal of Biological Chemistry. 1997 ; Vol. 272, No. 49. pp. 30993-30997.
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