Osteoporosis and familial idiopathic scoliosis: Association with an abnormal alpha 2(i) collagen

Jay R. Shapiro, Virginia E. Burn, Stewart D. Chipman, Kosta P. Velis, Manjula Bansal

Research output: Contribution to journalArticlepeer-review

Abstract

A positive family history is considered a risk factor for osteoporosis (OP) although the genetic or biochemical basis for this relationship remains undefined. Various mutations affecting normal synthesis of type I collagen have been reported in osteogenesis imperfecta (OI), a heritable disorder of connective tissue. Family A, in which the proband and a daughter are afflicted with OP and idiopathic scoliosis was examined for defects in collagen metabolism. Dermal fibroblast cultures were established to investigate de novo collagen synthesis. SDS-PAGE revealed an abnormally migrating alpha 2(I) chain and procollagen in two generations. Examination of the kinetics of type I collagen pC & N-propeptide processing demonstrated a rate 2x control in the proband. The phenotype family A is not OI. It shares features with families B & C, having familial clustering of OP. However, collagen synthesis was not abnormal in family B & C. These data suggest that in family A the alpha 2(I) structural defect may be related to defective skeletal matrix formation.

Original languageEnglish (US)
Pages (from-to)117-124
Number of pages8
JournalConnective tissue research
Volume21
Issue number1-4
DOIs
StatePublished - 1989
Externally publishedYes

Keywords

  • Bone Mineral Content
  • Fracture History
  • Osteogenesis Imperfecta
  • Osteoporosis
  • Post-translational Modification
  • Type I Collagen

ASJC Scopus subject areas

  • Rheumatology
  • Biochemistry
  • Orthopedics and Sports Medicine
  • Molecular Biology
  • Cell Biology

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