Abstract
We studied in vitro proliferation and collagen biosynthesis of chondrocytes and osteoblasts in thanatophoric dysplasia (TD), chondroectodermal dysplasia (CED), short rib polydaktyly-syndrome type III (SRP-III), short rib syndrome type Beemer (SR-Beemer) and osteogenesis imperfecta type II (OI-II). In TD morphologically proliferation zone is markedly reduced and in 2 out of 3 cases studied clonal growth of articular chondrocytes in methylcellulose was not or only slightly stimulated by IGF-I (1,25 ng/ml:.0%; 31% of control) and IGF-II (1,25 ng/ml:10%; 22% of control) but almost normally by TGF-β (1,25 ng/ml: 153%; 63% of control). In CED and SR-Beemer we found persistent hypertrophic cartilage islands in metaphyseal bone and in vitro elevated sensitivity of chondrocyte proliferation to TGF-β (1,25 ng/ml:376%; 213% of control). In OI-II osteoblasts synthesised electro-phoretically slower migrating collagen α1(I)-chains indicating posttranslational overmodification.
We conclude that both, defects in matrix synthesis and regulation of chondrocyte proliferation play an important role in the pathogenesis of lethal skeletal dysplasias.
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Brenner, R., Nerlich, A., Kirchner, F. et al. 146 PROLIFERATION AND COLLAGEN BIOSYNTHESIS OF CHONDROCYTES AND OSTEOBLASTS IN LETHAL SKELETAL DYSPLASIAS. Pediatr Res 30, 652 (1991). https://doi.org/10.1203/00006450-199112000-00176
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DOI: https://doi.org/10.1203/00006450-199112000-00176
