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The Role of DNA Methylation in Common Skeletal Disorders

Department of Internal Medicine, H.U. Marqués de Valdecilla-IFIMAV-University of Cantabria, Santander 39008, Spain
Author to whom correspondence should be addressed.
Biology 2012, 1(3), 698-713;
Received: 25 September 2012 / Revised: 31 October 2012 / Accepted: 16 November 2012 / Published: 22 November 2012
(This article belongs to the Special Issue Gene Expression and Regulation)
Bone is a complex connective tissue characterized by a calcified extracellular matrix. This mineralized matrix is constantly being formed and resorbed throughout life, allowing the bone to adapt to daily mechanical loads and maintain skeletal properties and composition. The imbalance between bone formation and bone resorption leads to changes in bone mass. This is the case of osteoporosis and osteoarthritis, two common skeletal disorders. While osteoporosis is characterized by a decreased bone mass and, consequently, higher susceptibly to fractures, bone mass tends to be higher in patients with osteoarthritis, especially in the subchondral bone region. It is known that these diseases are influenced by heritable factors. However, the DNA polymorphisms identified so far in GWAS explain less than 10% of the genetic risk, suggesting that other factors, and specifically epigenetic mechanisms, are involved in the pathogenesis of these disorders. This review summarizes current knowledge about the influence of epigenetic marks on bone homeostasis, paying special attention to the role of DNA methylation in the onset and progression of osteoporosis and osteoarthritis. View Full-Text
Keywords: gene expression; epigenetics; genetics; osteoporosis; osteoarthritis gene expression; epigenetics; genetics; osteoporosis; osteoarthritis
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Delgado-Calle, J.; Riancho, J.A. The Role of DNA Methylation in Common Skeletal Disorders. Biology 2012, 1, 698-713.

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