Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

1999 ◽  
Vol 85 (5) ◽  
pp. 486-490 ◽  
Author(s):  
Michelle Deere ◽  
Tiffany Sanford ◽  
Clair A. Francomano ◽  
Karla Daniels ◽  
Jacqueline T. Hecht
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Multiple Epiphyseal Dysplasia ◽  
Novel Mutations ◽  
Epiphyseal Dysplasia

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

1998 ◽  
Vol 103 (6) ◽  
pp. 633-638 ◽  
Author(s):  
S. Ikegawa ◽  
Hirofumi Ohashi ◽  
Gen Nishimura ◽  
Kyoung Chang Kim ◽  
Akio Sannohe ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Multiple Epiphyseal Dysplasia ◽  
Protein Mutations ◽  
Epiphyseal Dysplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

1995 ◽  
Vol 10 (3) ◽  
pp. 330-336 ◽  
Author(s):  
M.D. Briggs ◽  
S.M.G. Hoffman ◽  
L.M. King ◽  
A.S. Olsen ◽  
H. Mohrenweiser ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Protein Gene ◽  
Multiple Epiphyseal Dysplasia ◽  
Matrix Protein Gene ◽  
Epiphyseal Dysplasia

scholarly journals Disruption of Extracellular Matrix Structure May Cause Pseudoachondroplasia Phenotypes in the Absence of Impaired Cartilage Oligomeric Matrix Protein Secretion

2006 ◽  
Vol 281 (43) ◽  
pp. 32587-32595 ◽  
Author(s):  
Markus Schmitz ◽  
Alexander Becker ◽  
Alexander Schmitz ◽  
Christian Weirich ◽  
Mats Paulsson ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Endoplasmic Reticulum ◽  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Major Element ◽  
Multiple Epiphyseal Dysplasia ◽  
Transfected Cells ◽  
Primary Chondrocytes ◽  
Cell Matrix ◽  
Epiphyseal Dysplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia are two dominantly inherited chondrodysplasias associated with mutations in cartilage oligomeric matrix protein (COMP). The rarely available patient biopsies show lamellar inclusions in the endoplasmic reticulum. We studied the pathogenesis of these chondrodysplasias by expressing several disease-causing COMP mutations in bovine primary chondrocytes and found that COMP-associated chondrodysplasias are not exclusively storage diseases. Although COMP carrying the mutations D469Δ and D475N was retained within the endoplasmic reticulum, secretion of COMP H587R was only slightly retarded. All pseudoachondroplasia mutations impair cellular viability and cause a disruption of the extracellular matrix formed in alginate culture irrespective of the degree of cellular retention. The mutation D361Y associated with the clinically milder disease multiple epiphyseal dysplasia gave mild retention and limited matrix alterations, but the transfected cells showed normal viability. The effect of mutated COMP on matrix formation and cell-matrix interaction may be a major element in the pathogenesis of COMP-associated chondrodysplasias.

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