Osteogenesis imperfecta: insufficient collagen synthesis in early childhood as evidenced by analysis of compact bone and fibroblast cultures.
We analysed the composition of compact bone from 30 patients suffering from various forms of osteogenesis imperfecta (OI). Collagen and total protein content per cell of controls increased with the age of the donors, but were generally low in OI. In fibroblast cultures controls had a maximum of collagen synthesis between 2 and 9 years of age, an observation which was not seen in OI cells. In bone collagen both OI type II patients showed overhydroxylation of lysyl residues as did some patients with OI type III (25%) and OI type IV (33%). The collagen of OI type I patients was never found to be overmodified. In controls, collagen III was found exclusively during fetal time while it was present in significant amounts in bone tissue of all types of OI. The proportion of collagen V was somewhat higher in OI bones (about twice) than in controls. Our data suggest that the normal increase of collagen synthesis is defective in patients with OI. Perhaps some of these changes are due to specific molecular defects in collagen while others may be due to defective regulation of the maturation process.
Brenner
R E
RE
Max Planck Institut für Biochemie, Martinsried, FRG.
Vetter
U
U
Nerlich
A
A
Wörsdorfer
O
O
Teller
W M
WM
Müller
P K
PK
D000293:Adolescent; D001842:Bone and Bones / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis* / Q000145:classification; D004247:DNA / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008297:Male; D008903:Minerals / Q000378:metabolism; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000378:metabolism* / Q000473:pathology; D011506:Proteins / Q000378:metabolism
D008903:Minerals; D011506:Proteins; D003094:Collagen; D004247:DNA