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Endocrinology and Metabolism |
1 Institute of Biomedicine, Department of Anatomy, University of Turku, FIN-20520 Turku, Finland.2 Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas M. D. Anderson Cancer Center, Houston, TX.3 Medicine and Medical and Molecular Genetics, Indiana University, Indianapolis, IN.4 Pharmatest Services Ltd, Turku, Finland.
aAuthor for correspondence. Fax 358-2-3337352; e-mail kalervo.vaananen{at}utu.fi.
Background: Albers-Schönberg disease, or autosomal dominant osteopetrosis type II (ADO2), is caused by ineffective osteoclastic bone resorption resulting from mutations in the chloride channel 7 (ClCN7) gene. Individuals with ADO2 have increased numbers of large ineffective osteoclasts in addition to increased serum total tartrate-resistant acid phosphatase (TRACP) activity.
Methods: We investigated the serum activity of the osteoclast-derived 5b isoform of TRACP (TRACP 5b) and concentrations of the bone formation marker osteocalcin in clinically affected individuals, unaffected gene carriers, and healthy controls from 10 ADO2 families with known ClCN7 gene mutations. Bone fracture prevalence was studied in association with the serum markers.
Results: Similar to total TRACP, TRACP 5b was significantly increased in clinically affected individuals compared with age-matched controls. TRACP 5b correlated significantly with total TRACP (r = 0.833; P <0.001), suggesting that most of the TRACP in the serum of ADO2 patients is osteoclast-derived TRACP 5b. Osteocalcin was significantly increased in affected adults and slightly decreased in affected children. TRACP 5b and total TRACP were significantly increased in clinically affected individuals with severe fractures (P <0.05).
Conclusions: The results indicate that in ADO2, serum TRACP 5b reflects the number of osteoclasts and that the extremely high serum TRACP 5b activity is a specific indicator of the disease. Similar to total TRACP, TRACP 5b appears to be a potentially useful marker to stratify individuals with ClCN7 gene mutations into clinically affected and unaffected gene carriers. It may also have a prognostic value in the prediction of fractures in patients with a ClCN7 gene mutation.
The following articles in journals at HighWire Press have cited this article:
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  V. Munugalavadla, S. Vemula, E. C. Sims, S. Krishnan, S. Chen, J. Yan, H. Li, P. J. Niziolek, C. Takemoto, A. G. Robling, et al. The p85{alpha} Subunit of Class IA Phosphatidylinositol 3-Kinase Regulates the Expression of Multiple Genes Involved in Osteoclast Maturation and Migration Mol. Cell. Biol., December 1, 2008; 28(23): 7182 - 7198. [Abstract] [Full Text] [PDF]
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 S. G. Waguespack, S. L. Hui, L. A. DiMeglio, and M. J. Econs Autosomal Dominant Osteopetrosis: Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 771 - 778. [Abstract] [Full Text] [PDF]
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M. A. Karsdal and K. Henriksen Osteoclasts Control Osteoblast Activity IBMS BoneKEy, January 1, 2007; 4(1): 19 - 24. [Full Text] [PDF]
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 A. J. Janckila, R. N. Parthasarathy, L. K. Parthasarathy, R. S. Seelan, Y.-C. Hsueh, J. Rissanen, S. L. Alatalo, J. M. Halleen, and L. T. Yam Properties and expression of human tartrate-resistant acid phosphatase isoform 5a by monocyte-derived cells J. Leukoc. Biol., February 1, 2005; 77(2): 209 - 218. [Abstract] [Full Text] [PDF]
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 M. A. Karsdal, K. Henriksen, M. G. Sorensen, J. Gram, S. Schaller, M. H. Dziegiel, A.-M. Heegaard, P. Christophersen, T. J. Martin, C. Christiansen, et al. Acidification of the Osteoclastic Resorption Compartment Provides Insight into the Coupling of Bone Formation to Bone Resorption Am. J. Pathol., February 1, 2005; 166(2): 467 - 476. [Abstract] [Full Text] [PDF]
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 T.-Y. Chao, J.-C. Yu, C.-H. Ku, M. M. Chen, S.-H. Lee, A. J. Janckila, and L. T. Yam Tartrate-Resistant Acid Phosphatase 5b is a Useful Serum Marker for Extensive Bone Metastasis in Breast Cancer Patients Clin. Cancer Res., January 15, 2005; 11(2): 544 - 550. [Abstract] [Full Text] [PDF]
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