Phenotype variability in a daughter and father with mild osteogenesis imperfecta correlated with collagen and prolidase levels in cultured skin fibroblasts

Ann Clin Biochem. 2005 Jan;42(Pt 1):80-4. doi: 10.1258/0004563053026871.


Studies of collagen biosynthesis and prolidase activity were performed on cultured skin fibroblasts obtained from a female patient and her father, who displayed variable phenotypes of mild osteogenesis imperfecta (OI). For comparison, the same studies were also performed on age-matched controls. Biosynthesis of collagen in fibroblasts of the less affected father was reduced to approximately 50% of control levels, whereas in cells of the more severely affected daughter, it was decreased to about 20% of control levels. Furthermore, the decrease in collagen synthesis in OI fibroblasts was accompanied by a parallel decrease in prolidase activity and expression of beta1 integrin and insulin-like growth factor-I (IGF-I) receptors recovered from the cells. Therefore, prolidase, as well as IGF-I and beta1 integrin receptors involved in collagen metabolism regulation, may represent important factors influencing OI phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cells, Cultured
  • Collagen / metabolism*
  • Dipeptidases / metabolism*
  • Female
  • Fibroblasts / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Osteogenesis Imperfecta / metabolism*
  • Osteogenesis Imperfecta / pathology
  • Phenotype
  • Skin / metabolism*


  • Collagen
  • Dipeptidases
  • proline dipeptidase