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 language | English (US) |
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Pages (from-to) | 117-124 |
Number of pages | 8 |
Journal | Connective tissue research |
Volume | 21 |
Issue number | 1-4 |
DOIs | |
State | Published - 1989 |
Externally published | Yes |
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