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Abstract
Bone metabolism consists of a balance between bone formation and bone resorption, which is mediated by osteoblast and osteoclast activity, respectively. In order to ensure bone plasticity, the bone remodeling process needs to function properly. Mesenchymal stem cells differentiate into the osteoblast lineage by activating different signaling pathways, including transforming growth factor β (TGF-β)/bone morphogenic protein (BMP) and the Wingless/Int-1 (Wnt)/β-catenin pathways. Recent data indicate that bone remodeling processes are also epigenetically regulated by DNA methylation, histone post-translational modifications, and non-coding RNA expressions, such as micro-RNAs, long non-coding RNAs, and circular RNAs. Mutations and dysfunctions in pathways regulating the osteoblast differentiation might influence the bone remodeling process, ultimately leading to a large variety of metabolic bone diseases. In this review, we aim to summarize and describe the genetics and epigenetics of the bone remodeling process. Moreover, the current findings behind the genetics of metabolic bone diseases are also reported.
Highlights
Bone Structure and Cell Types published maps and institutional affil-Bone is a living tissue that supports and protects several organs in the body and provides the environment for blood cell production
Osteoblasts derive from mesenchymal stem cells (MSCs) that differentiate into the osteoblast lineage by activating different signaling pathways, the main ones being (i) transforming growth factor β (TGF-β)/bone morphogenic protein (BMP) and (ii) Wingless/Int-1 (Wnt)/β-catenin pathways (Figure 1)
The SRP 10565insGGA, which is located upstream of the SOST transcriptional site has been found to prompt a decrease in bone mineral density in older women [179]; (ii) Calcitonin receptor, whose coding polymorphism causes a proline-leucine substitution at codon 436 of the gene has been reported in patients with reduced bone mass [141]; (iii) Interleukin-1 receptor antagonist (IL-1RN), whose 86 base pair VNTR polymorphism in the second intron of the coding sequence has been related to early postmenopausal bone loss at the spine [180]; (iv) osteonectin gene, whose polymorphisms have been suggested to play a role in inherited osteoporosis susceptibility, such as the haplotype (1046C-1599G-1970T), which has been correlated to lower bone density [181]
Summary
Bone is a living tissue that supports and protects several organs in the body and provides the environment for blood cell production. Osteoblasts and osteoclasts are the major components of bone tissue cells, underpinning the main metabolic activities in bone. Osteocytes derive from osteoblasts that suspend their activity when buried in the matrix, acting as mechano-sensors capable of transducing mechanical strengths into biological signals [14]. When combined, these cells are organized into temporary anatomical structures named basic multicellular units (BMUs). The extracellular matrix (ECM) consists primarily of type I collagen (COL1), which is the most abundant protein in bone tissue, complexed with a crystalline inorganic component composed of hydroxylapatite (HA; Ca10 (PO4 ) (OH)2 ) with citrate, carbonate, and ions, such as F− , K+ , Sr2+ , Pb2+ , Zn2+ , Cu2+ , Mg2+ , and Fe2+ [15–17]. It is composed of a honeycomb-like network of trabecular plates, forming the ends of long bones and the central parts of flat bones [26]
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