We measured serum levels of total alkaline phosphatase activity, osteocalcin, carboxy-terminal propeptide of human type I procollagen (PICP), tartrate-resistant acid phosphatase activity (TRAP), and the fasting urinary hydroxyproline/creatinine ratio (OHPr/Cr) in seven affected members (four men, three women; age, 43.3 +/- 16.6 years [mean a SD]) of a family with clinically diagnosed type I-A osteogenesis imperfecta (OI) and in eight (five men, three women) normal age-matched (38.2 +/- 10.3) relatives. Three boys with OI and three normal girls of the same family were also studied, although they were excluded from statistical analysis. Bone mineral density was also determined at four different skeletal sites. Serum levels of PICP were measured with a radioimmunoassay (Farmos Diagnostica, Turku, Finland). There were no significant differences in mean values of the biomarkers studied between OI patients and normal relatives, with the only exception being serum levels of PICP (35 +/- 7.5 v 219 +/- 107.5 mu g/L, P < .001). A significant reduction of BMD was found in OI patients compared with normal relatives at the lumbar (L) spine (680 +/- 61 v 1,128 +/- 92 mg/cm(2), P < .001), at the ultradistal radius ([UDR] 323 +/- 85 v 458 +/- 76, P < .006), at the femoral neck ([F] 494 +/- 140 v 791 +/- 104, P < .001), and at the junction of the distal and middle third of the radius ([MR] 639 +/- 71 v 717 +/- 52, P < .029). When the patients and control subjects were combined, there were significant positive correlations between serum PICP and BMD values at various skeletal sites (L,P < .006; F,P < .05; UDR, P < .005; MR, P < .007). Our results suggest that decreased levels of serum PICP are typical of 01 type I patients, or at least of this family. This should be ascribed to a decreased amount of collagen produced, although the possibility of an abnormal sequence not recognized by the antiserum used should also be considered. Densitometric results indicate that quantitative or qualitative defects of collagen structure may contribute to the fragility of 01 bone by interfering with complete mineralization and/or normal tissue structure. Copyright (C) 1994 by W.B. Saunders Company
REDUCED SERUM LEVELS OF CARBOXY-TERMINAL PROPEPTIDE OF HUMAN TYPE-I PROCOLLAGEN IN A FAMILY WITH TYPE I-A OSTEOGENESIS IMPERFECTA / Minisola, Salvatore; A. L., Piccioni; R., Rosso; E., Romagnoli; M. T., Pacitti; L., Scarnecchia; G., Mazzuoli. - In: METABOLISM, CLINICAL AND EXPERIMENTAL. - ISSN 0026-0495. - ELETTRONICO. - 43:10(1994), pp. 1261-1265. [10.1016/0026-0495(94)90220-8]
REDUCED SERUM LEVELS OF CARBOXY-TERMINAL PROPEPTIDE OF HUMAN TYPE-I PROCOLLAGEN IN A FAMILY WITH TYPE I-A OSTEOGENESIS IMPERFECTA
MINISOLA, Salvatore;
1994
Abstract
We measured serum levels of total alkaline phosphatase activity, osteocalcin, carboxy-terminal propeptide of human type I procollagen (PICP), tartrate-resistant acid phosphatase activity (TRAP), and the fasting urinary hydroxyproline/creatinine ratio (OHPr/Cr) in seven affected members (four men, three women; age, 43.3 +/- 16.6 years [mean a SD]) of a family with clinically diagnosed type I-A osteogenesis imperfecta (OI) and in eight (five men, three women) normal age-matched (38.2 +/- 10.3) relatives. Three boys with OI and three normal girls of the same family were also studied, although they were excluded from statistical analysis. Bone mineral density was also determined at four different skeletal sites. Serum levels of PICP were measured with a radioimmunoassay (Farmos Diagnostica, Turku, Finland). There were no significant differences in mean values of the biomarkers studied between OI patients and normal relatives, with the only exception being serum levels of PICP (35 +/- 7.5 v 219 +/- 107.5 mu g/L, P < .001). A significant reduction of BMD was found in OI patients compared with normal relatives at the lumbar (L) spine (680 +/- 61 v 1,128 +/- 92 mg/cm(2), P < .001), at the ultradistal radius ([UDR] 323 +/- 85 v 458 +/- 76, P < .006), at the femoral neck ([F] 494 +/- 140 v 791 +/- 104, P < .001), and at the junction of the distal and middle third of the radius ([MR] 639 +/- 71 v 717 +/- 52, P < .029). When the patients and control subjects were combined, there were significant positive correlations between serum PICP and BMD values at various skeletal sites (L,P < .006; F,P < .05; UDR, P < .005; MR, P < .007). Our results suggest that decreased levels of serum PICP are typical of 01 type I patients, or at least of this family. This should be ascribed to a decreased amount of collagen produced, although the possibility of an abnormal sequence not recognized by the antiserum used should also be considered. Densitometric results indicate that quantitative or qualitative defects of collagen structure may contribute to the fragility of 01 bone by interfering with complete mineralization and/or normal tissue structure. Copyright (C) 1994 by W.B. Saunders CompanyI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
