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] |