Genetic factors in degenerative disc disease

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OBJECTIVE

To analyze available literature data on the role of genetic factors in degenerative disc disease.

METHODOLOGY

We reviewed the PubMed, MEDLINE, Cohrane Library, e-Library databases using the following keywords: degenerative spine lesions, intervertebral disc herniation, pathogenesis, genetic regulation.

RESULTS

Searching depth was 2002—2022. We reviewed 84 references. Exclusion criteria: duplicate publications, reviews without detailed description of results, opinions. Finally, we included 43 the most significant studies.

CONCLUSION

There are literature data on proinflammatory cytokines, growth factors and osteodestructive processes in pathogenesis of degenerative disc disease. However, there is only fragmentary information about the role of genetic regulation of these processes. Some factors, such as microRNA, TGF-b, VEGF, MMP are still poorly understood.

Keywords:

degenerative disc disease

pathogenesis

genetic factors

Authors:

Chekhonatsky V.A.

Russian Medical Academy of Continuous Postgraduate Education

ORCID: 0000-0003-0046-6612

Mirzaev K.B.

Russian Medical Academy of Continuous Postgraduate Education

ORCID: 0000-0002-9307-4994

Pavlova G.V.

Burdenko National Medical Research Center of Neurosurgery

SPIN RSCI: 4633-8339
Scopus AuthorID: 7005650683
ORCID: 0000-0002-6885-6601

Usachev D.Yu.

Russian Medical Academy of Continuous Postgraduate Education;
Burdenko Neurosurgical Center

ORCID: 0000-0002-9811-9442

Zakharova N.B.

Razumovsky Saratov State Medical University

ORCID: 0000-0001-9410-2240

Chekhonatsky A.A.

Razumovsky Saratov State Medical University

ORCID: 0000-0003-3327-1483

Kuznetsov A.V.

Russian Medical Academy of Continuous Postgraduate Education

ORCID: 0000-0003-0046-6612

Gorozhanin A.V.

Russian Medical Academy of Continuous Postgraduate Education;
Botkin Moscow City Clinical Hospital

ORCID: 0000-0002-1209-8960

Dreval O.N.

Russian Medical Academy of Continuous Postgraduate Education

ORCID: 0000-0002-8944-9837

Received:

14.11.2023

Accepted:

12.01.2024

List of references:

Hoy D, Bain C, Williams G, March L, Brooks P, Blyth F, Woolf A, Vos T, Buchbinder R. A systematic review of the global prevalence of low back pain. Arthritis & Rheumatology. 2012;64(6):2028-2037. https://orcid.org/10.1002/art.34347
Casey E. Natural History of Radiculopathy. Physical Medicine and Rehabilitation Clinics of North America. 2022;1:1-5.
Dreval ON, Kuznetsov AV, Chekhonatskii VA, Baskov AV, Chekhonatskii AA, Gorozanin AV. Patogeneticheskie aspecty I factory riska razvitiya recidiva gryzhi diska poyasnicknogo otdela pozvonochnika. Hiryriya Pozvonochnika. 2021;18(1):47-52. (In Russ.).
Clouet J, Vinatier C, Merceron C, Pot-Vaucel M, Hamel O, Weiss P, Grimandi G, Guicheux J. The intervertebral disc: From pathophysiology to tissue engineering. Joint Bone Spine. 2009;76:614-618. https://orcid.org/10.1016/j.jbspin.2009.07.002
Corallo D, Trapani V, Bonaldo P. The notochord: structure and functions. Cellular and Molecular Life Sciences. 2015;72:2989-3008.
Joshua DS, Niloofar F, Brandon L, Bowles RD. Multiplex Epigenome Editing of Dorsal Root Ganglion Neuron Receptors Abolishes Redundant Interleukin 6, Tumor Necrosis Factor Alpha, and Interleukin 1β Signaling by the Degenerative Intervertebral Disc. Human Gene Therapy. 2019;30(9):1147-1160. https://orcid.org/10.1089/hum.2019.032
Eyre DR, Muir H. Quantitative analysis of types I and II collagens in human intervertebral discs at various ages. Biochimica et Biophysica Acta. 1977;492:29-42. https://orcid.org/10.1016/0005-2795(77)90211-2
Sztrolovics R, Alini M, Roughley PJ, Mort JS. Aggrecan degradation in human intervertebral disc and articular cartilage. Biochemical Journal. 1997;326:235-241. https://orcid.org/10.1042/bj3260235
Vo NV, Hartman RA, Yurube T, Jacobs LJ, Sowa GA, Kang JD. Expression and regulation of metalloproteinases and their inhibitors in intervertebral disc aging and degeneration. Spine Journal. 2013;13:331-341. https://orcid.org/10.1016/j.spinee.2012.02.027
Adams MA, Roughley PJ. What is intervertebral disc degeneration, and what causes it? Spine. 2006;31:2151-2161. https://orcid.org/10.1097/01.brs.0000231761.73859.2c
Wang F, Cai F, Shi R, Wang XH, Wu XT. Aging and age related stresses: A senescence mechanism of intervertebral disc degeneration. Osteoarthritis and Cartilage. 2016;24:398-408. https://orcid.org/10.1016/j.joca.2015.09.019
Zhen G, Wen C, Jia X, Li Y, Crane JL, Mears SC, Askin FB, Frassica FJ, Chang W, Yao J, Carrino JA, Cosgarea A, Artemov D, Chen Q, Zhao Z, Zhou X, Riley L, Sponseller P, Wan M, Lu WW, Cao X. Inhibition of TGF-β signaling in mesenchymal stem cells of subchondral bone attenuates osteoarthritis. Nature Medicine. 2013;19(6):704-712. https://orcid.org/10.1038/nm.3143
Qin B, Lei M, Amit J, Janet L Crane. Mechanosignaling activation of TGFβ maintains intervertebral disc homeostasis. Bone Research. 2017;5:17008. https://orcid.org/10.1038/boneres.2017.8
Kim J, Kang Y, Kojima Y, Lighthouse JK, Hu X, Aldred MA, McLean DL, Park H, Comhair SA, Greif DM, Erzurum SC, Chun HJ. An endothelial apelin-FGF link mediated by miR-424 and miR-503 is disrupted in pulmonary arterial hypertension. Nature Medicine. 2013;19(1):74-82. https://orcid.org/10.1038/nm.3040
Saito A, Horie M, Nagase T. TGF-β signaling in lung health and disease. International Journal of Molecular Sciences. 2018;19:2640.
Catuogno S, Cerchia L, Romano G, Pognonec P, Condorelli G, de Franciscis V. MiRNA-34c may protect lung cancer cells from paclitaxel-induced apoptosis. Oncogene. 2013;32:341-351.
Jansson MD, Lund AH. MicroRNA and cancer. Molecular Oncology. 2012;6:590-610.
Visse R, Nagase H. Matrix metalloproteinases and tissue inhibitors of metalloproteinases: structure, function, and biochemistry. Circulation Research. 2003;92:827-839.
Ji ML, Lu J, Shi PL, Zhang XJ, Wang SZ, Chang Q, Chen H, Wang C. Dysregulated MiRNA-98 Contributes to Extracellular Matrix Degradation by Targeting IL-6/STAT3 Signaling Pathway in Human Intervertebral Disc Degeneration. Journal of Bone and Mineral Research. 2016;31:900-909. https://orcid.org/10.1002/jbmr.2753
Wang XW, Liu JJ, Wu QN, Wu SF, Hao DJ. The in vitro and in vivo effects of microRNA-133a on intervertebral disc destruction by targeting MMP9 in spinal tuberculosis. Life Sciences. 2017;188:198-205. https://orcid.org/10.1016/j.lfs.2017.07.022
Chujo T, An HS, Akeda K, Miyamoto K, Muehleman C, Attawia M, Andersson G, Masuda K. Effects of growth differentiation factor-5 on the intervertebral disc—In vitro bovine study and in vivo rabbit disc degeneration model study. Spine. 2006;31:2909-2917. https://orcid.org/10.1097/01.brs.0000248428.22823.86
Liu W, Zhang Y, Xia P, Li S, Feng X, Gao Y, Wang K, Song Y, Duan Z, Yang S, Shao Z, Yang C. MicroRNA-7 regulates IL-1beta-induced extracellular matrix degeneration by targeting GDF5 in human nucleus pulposus cells. Biomedicine & Pharmacotherapy. 2016;83:1414-1421. https://orcid.org/10.1016/j.biopha.2016.08.062
Liu W, Xia P, Feng J, Kang L, Huang M, Wang K, Song Y, Li S, Wu X, Yang S, Yang C. MicroRNA-132 upregulation promotes matrix degradation in intervertebral disc degeneration. Experimental Cell Research. 2017;359:39-49. https:///doi.org/10.1016/j.yexcr.2017.08.011
Gruber HE, Norton HJ, Ingram JA, Hanley EN. The SOX9 transcription factor in the human disc: Decreased immunolocalization with age and disc degeneration. Spine. 2005;30:625-630. https:///doi.org/10.1097/01.brs.0000155420.01444.c6
Schroeder M, Viezens L, Schaefer C, Friedrichs B. Chemokine profile of disc degeneration with acute or chronic pain. Journal of Neurosurgery: Spine. 2013;18:496-503.
Abbott RD, Purmessur D, Monsey RD, Brigstock DR, Laudier DM, Iatridis JC. Degenerative grade affects the responses of human nucleus pulposus cells to link-N, CTGF, and TGFβ3. Journal of Spinal Disorders and Techniques. 2013;26:86-94.
Hata A, Chen YG. TGF-β Signaling from Receptors to Smads. Cold Spring Harbor Perspectives in Biology. 2016;8(9):a022061. https:///doi.org/10.1101/cshperspect.a022061
Li L, Shi JY, Zhu GQ, Shi B. MiRNA-17-92 cluster regulates cell proliferation and collagen synthesis by targeting TGFB pathway in mouse palatal mesenchymal cells. Journal of Cellular Biochemistry. 2012;113(4):1235-1244. https:///doi.org/10.1002/jcb.23457
Yao G, Yin M, Lian J, Tian H, Liu L, Li X, Sun F. MicroRNA-224 is involved in transforming growth factor-b-mediated mouse granulosa cell proliferation an granulosa cell function by targeting Smad4. Molecular Endocrinology. 2010;24:540-551.
Xiao B, Liu Z, Li BS, Tang B, Li W, Guo G, Shi Y, Wang F, Wu Y, Tong WD, Guo H, Mao XH, Zou QM. Induction of microRNA-155 during Helicobacter pylori infection and its negative regulatory role in the inflammatory response. The Journal of Infectious Diseases. 2009;200:916-925.
Fu G, Ye G, Nadeem L, Ji L, Manchanda T, Wang Y, Zhao Y, Qiao J, Wang YL, Lye S, Yang BB, Peng C. MicroRNA-376c impairs transforming growth factor-b and nodal signaling to promote trophoblast cell proliferation and invasion. Hypertension. 2013;61(4):864-872. https:///doi.org/10.1161/HYPERTENSIONAHA.111.203489
Sherafatian M, Abdollahpour HR, Ghaffarpasand F, Yaghmaei S, Azadegan M, Heidari M. MicroRNA Expression Profiles, Target Genes, and Pathways in Intervertebral Disk Degeneration: A Meta-Analysis of 3 Microarray Studies. World Neurosurgery. 2019;126:389-397.
Risbud MV, Shapiro IM. Role of Cytokines in Intervertebral Disc Degeneration: Pain and Disc-content. Nature Reviews Rheumatology. 2014;10:44-56. https:///doi.org/10.1038/nrrheum.2013.160
Byvaltsev VA, Belykh EG, Stepanov IA, Giers M, Preul MC. Cytokinovye mechnizmy deeneracii mezhpozvonkovogo diska. Sibirskiy Medicinskiy Zhurnal. 2015;137(6):5-11. (In Russ.).
Dong W, Liu J, Lv Y, Wang F, Liu T, Sun S, Liao B, Shu Z, Qian J. MiRNA-640 aggravates intervertebral disc degeneration via NF-kappaB and WNT signalling pathway. Cell Proliferation. 2019;52:12664. https:///doi.org/10.1111/cpr.12664
Shen L, Xiao Y, Wu Q, Liu L, Zhang C, Pan X. TLR4/NF-κB Axis Signaling Pathway-Dependent Up-Regulation of MiRNA-625-5p Contributes to Human Intervertebral Disc Degeneration by Targeting COL1A1. American Journal of Translation Research. 2019;11:1374-1388.
Zhao CQ, Wang LM, Jiang LS, Dai LY. The cell biology of intervertebral disc aging and degeneration. Ageing Research Reviews. 2007;6:247-261. https:///doi.org/10.1016/j.arr.2007.08.001
Shimura T, Takenaka Y, Fukumori T, Tsutsumi S, Okada K, Hogan V, Kikuchi A, Kuwano H, Raz A. Implication of galectin-3 in Wnt signaling. Cancer Research. 2005;65:3535-3537. https:///doi.org/10.1158/0008-5472.CAN-05-0104
Kameshima S, Okada M, Ikeda S, Watanabe Y, Yamawaki H. Coordination of changes in expression and phosphorylation of eukaryotic elongation factor 2 (eEF2) and eEF2 kinase in hypertrophied cardiomyocytes. Biochemistry and Biophysics Reports. 2016;7:218-224. https:///doi.org/10.1016/j.bbrep.2016.06.018
Yang Q, Guo XP, Cheng YL, Wang Y. MicroRNA-143-5p targeting eEF2 gene mediates intervertebral disc degeneration through the AMPK signaling pathway. Arthritis Research & Therapy. 2019;21:97. https:///doi.org/10.1186/s13075-019-1863-5
Zhao K, Zhang Y, Kang L, Song Y, Wang K, Li S, Wu X, Hua W, Shao Z, Yang S. Epigenetic silencing of MiRNA-143 regulates apoptosis by targeting BCL2 in human intervertebral disc degeneration. Gene. 2017;628:259-266. https:///doi.org/10.1016/j.gene.2017.07.043
Kang L, Yang C, Song Y, Zhao K, Liu W, Hua W, Wang K, Tu J, Li S, Yin H, Zhang Y. MicroRNA-494 promotes apoptosis and extracellular matrix degradation in degenerative human nucleus pulposus cells. Oncotarget. 2017;8:27868-27881. https:///doi.org/10.18632/oncotarget.15838
Chekhonatskii VA, Dreval ON, Kuznetsov AV, Chekhonatskii AA, Zaharova NB, Grihina EA, Gorozanin AV, Volna VV. Pol mediatorov vospaleniya, factorov riska I osteodistroficheskih processov v razvitii recidivov gryzh diska poyasnichnogo otdel pozvonochnika. Annaly clinicheskoi i eksperimentalnoi nevrologii. 2023;17(2):36-42. (In Russ.). https:///doi.org/10.54101/ACEN.2023.2.5

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