[Morphofunctional aspects of genetic analysis of osteogenesis imperfecta in cultured skin fibroblasts]. / Morfofunktsional'nye aspekty geneticheskogo analiza nesovershennogo osteogeneza v kul'ture kozhnykh fibroblastov.

Osteogenesis imperfecta (OI) is a disease with biochemical evidence of abnormality in collagen biosynthesis. We report here that expression of the OI phenotype extends to the level of dermal fibroblast morphology in vitro. Growth characteristics and morphology of control (n = 3) and 01 cell strains (n = 10) were compared. Our results show that (1) OI fibroblasts take longer time (16 days) than that with control cells (13 days) to reach stationary phase; (2) OI fibroblasts achieve a lower cell density (1.0 +/- 0.09) at stationary phase compared to control cells (1.47 +/- 0.1); p < 0.01; (3) cell shape (expressed as the width/length ratio) was also abnormal in OI cells: they have significantly increased ratios (p < 0.05) compared to control. These changes were associated with an increased level of fibronectin concentration and engorged cytoplasmic vesicles in dermal fibroblasts in vitro. We have reason to suspect that dysmorphology of fibroblasts may be related to aberrant collagen metabolism that leads to inadequacy of extracellular substratum, that in its turn hinders normal adhesion of cells as well as their spreading, morphology and fibronectin concentration.