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Biomarker Genes in Autosomal Dominant Osteopetrosis Type II (ADO II)

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Biomarkers in Bone Disease

Abstract

Type II autosomal dominant osteopetrosis (ADO II) is a rare genetic disease characterized by an increase in bone mass. This pathology is caused by osteoclast impairment due, in 60% of cases, to CLCN7 heterozygous mutations. ADO II patients present specific X-ray features, but until recently the disease lacked biological markers. It has been demonstrated that elevated serum tartrate-resistant acid phosphatase (TRAP) could be a good marker. In addition, microarray analysis and various validation experiments comparing gene expression levels in osteoclasts from ADO II patients and healthy donors have demonstrated that ITGB5 expression is increased in the former and that PFR1, SERPINE2, and WARS expression are all decreased in ADO II osteoclasts. Of these new biological markers, two are described for the first time in osteoclasts.

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Abbreviations

ADO II:

Autosomal dominant osteopetrosis type II

CBS:

Cystathionine βsynthase

CLCN7:

Chloride channel 7

ECM:

Extracellular matrix

M-CSF:

Macrophage colony-stimulating factor

TRAP:

Tartrate-resistant acid phosphatase

v-ATPase:

Vacuolar ATPase proton pump

WARS:

Tryptophanyl-tRNA synthetase

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Authors and Affiliations

  1. Molecular Oral Pathophysiology, INSERM UMRS 1138, Centre de Recherche des Cordeliers, UFR d’Odontologie, Université Paris Diderot, 15 rue de l’Ecole de Médecine, 75006, Paris, France

    Amélie E. Coudert

  2. BIOSCAR, INSERM UMRS 1132, Hôpital Lariboisière, Université Paris Diderot, Secteur Violet, Porte 4, Bâtiment Viggo Petersen, 10 rue Ambroise Paré, 75010, Paris, France

    Marie-Christine de Vernejoul

Authors
  1. Amélie E. Coudert
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  2. Marie-Christine de Vernejoul
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Correspondence to Amélie E. Coudert or Marie-Christine de Vernejoul .

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Editors and Affiliations

  1. Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, United Kingdom

    Vinood B. Patel

  2. Department of Nutrition and Dietetics, Division of Diabetes and Nutritional Sciences, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

    Victor R. Preedy

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Coudert, A.E., de Vernejoul, MC. (2017). Biomarker Genes in Autosomal Dominant Osteopetrosis Type II (ADO II). In: Patel, V., Preedy, V. (eds) Biomarkers in Bone Disease. Biomarkers in Disease: Methods, Discoveries and Applications. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7693-7_20

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