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Table 1 List of the main skeletal diseases, their clinical description and molecular features

From: Mesenchymal stem cells: amazing remedies for bone and cartilage defects

Bone diseases Clinical description Molecular features
Intervertebral disc (IVD) degeneration Increased extracellular matrix breakdown and abnormal matrix synthesis leading to reduced hydration, loss of disc height, and decreased ability to absorb load, disc herniation, vertebral instability and spinal stenosis, back and neck pain [3] Collagen I (COL1A1/A2), Collagen IX (COL9A1/A2/A3), CollagenXI (COL11A1/A2/A3),VDR genes (TaqI, ApaI), Col I (COLIA1, Aggrecan (CS1), MMP-3(5A/6A) [4, 5]
Osteoporosis Acute back pain caused by a pathologic vertebral compression fracture as the earliest symptom, decreased density (mass/volume) of normally mineralized bone, decreased mechanical strength, making the skeleton more likely to fracture [6] Col I (COL1A1/A2), PTH, PTHR, VDR, BMPs (BMP2,4,7, OP1LRP5), LRP6, RANK, RANKL [7]
Osteogenesis imperfecta (OI) Progressive skeletal deformation, loss of BMD, frequent fractures, short stature, joint hypermobility and pain [8, 9] mutations in the type I collagen genes COL1A1/A2, collagen modification (CRTAP, LEPRE1, PPIB), processing (BMP1), or folding (SERPINH1, FKBP10 [8, 10]
Osteoarthritis (OA) Joint inflammation, joint pain, stiffness, swelling and restriction of joint function [11] COL2A1, COL9A3, COL11A1, CRTM, VDR, ESR1, BMP5, ALDH1A2, MCF2L, CHADL, GDF5 and FILIP1, GLIS3, TGFB1, TNC and WWP2 [12,13,14]
Rheumatoid arthritis (RA) Joint degeneration, loss of cartilage, and alterations of subchondral bone, abnormalities of weight-bearing joints and hands, including knees and hips, symptoms of OA including pain, stiffness, and altered function in knee and hips [15] HLA-DR, PTPN22, IL6R, TRAF1/C5, STAT4, PADI4, FCGR, CD40, CCL21, CCR6 [16]
  1. COL collagen, VDR vitamin D receptor, MMP matrix metalloproteinase, PTH parathyroid hormone, PTHR parathyroid hormone receptor, BMP bone morphogenetic protein, LPR low-density lipoprotein receptor-related protein, RANK receptor activator of nuclear factor kappa B, RANKL RANK ligand, BMD bone mineral density, CRTM cartilage matrix protein, ESR estrogen receptor, CRTAP cartilage-associated protein, LEPRE1 leucine proline-enriched proteoglycan1, PPIB peptidyl-prolyl isomerase 1 (cyclophylin B), SERPINH1 serpin peptidase inhibitor, clade H, FKBP10 Fk506-binding protein 10, ALDH aldehyde dehydrogenase, MCFL2 MCF.2 cell line derived transforming sequence-like protein, CHADL chondroadherin like, GDF5 growth differentiation factor 5, FILIP1 filamin-A-interacting protein 1, GLIS3 GLI-similar 3, TGFB1 transforming growth factor beta 1, TNC tenascin C, WWP2 WW domain containing E3 ubiquitin protein ligase 2, HLA-DR human leukocyte antigen – DR isotype, PTPN22 protein tyrosine phosphatase, non-receptor type 22, IL6R interleukin-6 receptor, TRAF1/C5 tumor necrosis factor receptor-associated factor-1, STAT4 signal transducer and activator of transcription 4, PADI4 peptidylarginine deiminase 4, FCGR Fc gamma receptor, CCL21 CC chemokine ligand 21, CCR6 CC chemokine receptor 6