COMP mutations, chondrocyte function and cartilage matrix

Matrix Biol. 2005 Jan;23(8):525-33. doi: 10.1016/j.matbio.2004.09.006. Epub 2004 Nov 18.

Abstract

Cartilage oligomeric matrix protein (COMP) is a large extracellular pentameric glycoprotein found in the territorial matrix surrounding chondrocytes. More than 60 unique COMP mutations have been identified as causing two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). Recent studies demonstrate that calcium-binding and calcium induced protein folding differ between wild type and mutant COMP proteins and abnormal processing of the mutant COMP protein causes the characteristic large lamellar appearing rough endoplasimic reticulum (rER) cisternae phenotype observed in PSACH and EDMI growth plate chondrocytes. To understand the cellular events leading to this intracellular phenotype, PSACH chondrocytes with a G427E, D469del and D511Y mutations were grown in 3-D culture to produce cartilage nodules. Each nodule was assessed for the appearance and accumulation of cartilage-specific proteins within the rER and for matrix protein synthesis. All three COMP mutations were associated with accumulation of COMP in the rER cisternae by 4 weeks in culture, and by 8 weeks the majority of chondrocytes had the characteristic cellular phenotype. Mutations in COMP also affect the secretion of type IX collagen and matrilin-3 (MATN3) but not the secretion of aggrecan and type II collagen. COMP, type IX collagen and MATN3 were dramatically reduced in the PSACH matrices, and the distribution of these proteins in the matrix was diffuse. Ultrastructural analysis shows that the type II collagen present in the PSACH matrix does not form organized fibril bundles and, overall, the matrix is disorganized. The combined absence of COMP, type IX collagen and MATN3 causes dramatic changes in the matrix and suggests that these proteins play important roles in matrix assembly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium / metabolism
  • Cartilage / cytology*
  • Cartilage / metabolism
  • Cartilage / pathology
  • Cartilage / ultrastructure*
  • Cartilage Oligomeric Matrix Protein
  • Chondrocytes / cytology
  • Chondrocytes / metabolism*
  • Collagen Type II / chemistry
  • Collagen Type IX / chemistry
  • Collagen Type IX / physiology*
  • Dwarfism / genetics
  • Endoplasmic Reticulum / metabolism
  • Extracellular Matrix Proteins / chemistry
  • Extracellular Matrix Proteins / genetics*
  • Extracellular Matrix Proteins / physiology*
  • Glycoproteins / genetics*
  • Glycoproteins / physiology*
  • Humans
  • Matrilin Proteins
  • Microscopy, Fluorescence
  • Mutation
  • Phenotype
  • Protein Binding
  • Protein Folding
  • Time Factors

Substances

  • Cartilage Oligomeric Matrix Protein
  • Collagen Type II
  • Collagen Type IX
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Matrilin Proteins
  • TSP5 protein, human
  • Calcium