Skip to main content
U.S. Department of Energy
Office of Scientific and Technical Information

In vitro sulfate turnover in osteogenesis imperfacta congenita and tarda

Journal Article · · Am. J. Med. Genet.; ()
Sulfate (/sup 35/SO/sub 4//sup -2/) uptake was studied in confluent skin fibroblasts from three patients with osteogenesis imperfecta congenita, six patients with osteogenesis imperfecta tarda, three clinically unaffected relatives of an osteogenesis imperfecta tarda patient, and four controls. Only two of the osteogenesis imperfecta congenita cell strains showed an increased uptake of sulfate, all other cell strains being comparable to the control group. The degradation rate of glycosaminolgycans in mutants as seen by the chase experiments was comparable to that found in the normal control cell strains. Glucose oxidation was normal in the osteogenesis imperfecta cell strains having an abnormal sulfate uptake. This rules out the possibility of an hypermetabolic state of these cells. These findings do not warrant the use of /sup 35/SO/sub 4//sup -2/ incorporation in cultured cells as a tool for prenatal diagnosis of osteogenesis imperfecta.
Research Organization:
Shriners Hospital for Crippled Children, Montreal, Canada
OSTI ID:
5891788
Journal Information:
Am. J. Med. Genet.; (), Journal Name: Am. J. Med. Genet.; () Vol. 4:4
Country of Publication:
United States
Language:
English