Share This Article:

Gene Mutations Associated with Temporomandibular Joint Disorders: A Systematic Review

DOI: 10.4236/oalib.1101583    669 Downloads   1,066 Views   Citations

ABSTRACT

Background: The temporomandibular joint (TMJ) is a bilateral synovial joint between the mandible and the temporal bone of the skull. TMJ disorders (TMDs) are a set of complicated and poorly understood clinical conditions, in which TMDs are associated with a number of symptoms including pain and limited jaw movement. The increasing scientific evidence suggests that genetic factors play a significant role in the pathology of TMDs. However, the underlying mechanism of TMDs remains largely unknown. Objective: The study aimed to determine the associated genes to TMDs in humans and animals. Methods: The literature search was conducted through databases including Medline (Ovid), EMBASE (Ovid), and PubMed (NLM) by using scientific terms for TMDs and genetics in March 2015. Additional studies were identified by searching bibliographies of highly relevant articles and Scopus (Elsevier). Results: Our systematic analyses identified 31 articles through literature searches. A total of 112 genes were identified to be significantly and specifically associated with TMDs. Conclusion: Our systematic review provides a list of accurate genes associated with TMDs and suggests a genetic contribution to the pathology of TMDs.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

Sangani, D. , Suzuki, A. , VonVille, H. , Hixson, J. and Iwata, J. (2015) Gene Mutations Associated with Temporomandibular Joint Disorders: A Systematic Review. Open Access Library Journal, 2, 1-14. doi: 10.4236/oalib.1101583.

References

[1] Tanaka, E., Detamore, M.S. and Mercuri, L.G. (2008) Degenerative Disorders of the Temporomandibular Joint: Etiology, Diagnosis, and Treatment. Journal of Dental Research, 87, 296-307.
http://dx.doi.org/10.1177/154405910808700406
[2] Shaffer, S.M., Brismee, J.M., Sizer, P.S. and Courtney, C.A. (2014) Temporomandibular Disorders. Part 1: Anatomy and Examination/Diagnosis. The Journal of Manual & Manipulative Therapy, 22, 2-12.
http://dx.doi.org/10.1179/2042618613Y.0000000060
[3] Mundt, T., Mack, F., Schwahn, C., Bernhardt, O., Kocher, T., et al. (2008) Association between Sociodemographic, Behavioral, and Medical Conditions and Signs of Temporomandibular Disorders across Gender: Results of the Study of Health in Pomerania (SHIP-0). The International Journal of Prosthodontics, 21, 141-148.
[4] Leboeuf-Yde, C., Nielsen, J., Kyvik, K.O., Fejer, R. and Hartvigsen, J. (2009) Pain in the Lumbar, Thoracic or Cervical Regions: Do Age and Gender Matter? A Population-Based Study of 34,902 Danish Twins 20-71 Years of Age. BMC Musculoskeletal Disorders, 10, 39.
http://dx.doi.org/10.1186/1471-2474-10-39
[5] Magalhaes, B.G., de-Sousa, S.T., de Mello, V.V., da-Silva-Barbosa, A.C., de-Assis-Morais, M.P., et al. (2014) Risk Factors for Temporomandibular Disorder: Binary Logistic Regression Analysis. Medicina Oral Patologia Oral y Cirugia Bucal, 19, e232-e236.
http://dx.doi.org/10.4317/medoral.19434
[6] Dworkin, S.F., Huggins, K.H., LeResche, L., Von Korff, M., Howard, J., et al. (1990) Epidemiology of Signs and Symptoms in Temporomandibular Disorders: Clinical Signs in Cases and Controls. The Journal of the American Dental Association, 120, 273-281.
http://dx.doi.org/10.14219/jada.archive.1990.0043
[7] Bagis, B., Ayaz, E.A., Turgut, S., Durkan, R. and Ozcan, M. (2012) Gender Difference in Prevalence of Signs and Symptoms of Temporomandibular Joint Disorders: A Retrospective Study on 243 Consecutive Patients. International Journal of Medical Sciences, 9, 539-544.
http://dx.doi.org/10.7150/ijms.4474
[8] Wadhwa, S., Embree, M., Ameye, L. and Young, M.F. (2005) Mice Deficient in Biglycan and Fibromodulin as A Model for Temporomandibular Joint Osteoarthritis. Cells Tissues Organs, 181, 136-143.
http://dx.doi.org/10.1159/000091375
[9] Oakley, M. and Vieira, A.R. (2008) The Many Faces of the Genetics Contribution to Temporomandibular Joint Disorder. Orthodontics & Craniofacial Research, 11, 125-135.
http://dx.doi.org/10.1111/j.1601-6343.2008.00426.x
[10] Fillingim, R.B., Wallace, M.R., Herbstman, D.M., Ribeiro-Dasilva, M. and Staud, R. (2008) Genetic Contributions to Pain: A Review Of Findings in Humans. Oral Diseases, 14, 673-682.
http://dx.doi.org/10.1111/j.1601-0825.2008.01458.x
[11] Smith, S.B., Mir, E., Bair, E., Slade, G.D., Dubner, R., et al. (2013) Genetic Variants Associated with Development of TMD and Its Intermediate Phenotypes: The Genetic Architecture of TMD in the OPPERA Prospective Cohort Study. Journal of Pain, 14, T91-T101.e3.
http://dx.doi.org/10.1016/j.jpain.2013.09.004
[12] Davlin, S.L. and VonVille, H.M. (2012) Canine Rabies Vaccination and Domestic Dog Population Characteristics in the Developing World: A Systematic Review. Vaccine, 30, 3492-3502.
http://dx.doi.org/10.1016/j.vaccine.2012.03.069
[13] Huang, B., Takahashi, K., Sakata, T., Kiso, H., Sugai, M., et al. (2011) Increased Risk of Temporomandibular Joint Closed Lock: A Case-Control Study of ANKH Polymorphisms. PLoS ONE, 6, e25503.
http://dx.doi.org/10.1371/journal.pone.0025503
[14] Matsumoto, T., Tojyo, I., Kiga, N., Hiraishi, Y. and Fujita, S. (2008) Expression of ADAMTS-5 in Deformed Human Temporomandibular Joint Discs. Histology and Histopathology, 23, 1485-1493.
[15] Li, Y.J., Cai, H.X., Fang, W., Meng, Q.G., Li, J., et al. (2014) Fibroblast Growth Factor 2 Involved in the Pathogenesis of Synovial Chondromatosis of Temporomandibular Joint. Journal of Oral Pathology & Medicine, 43, 388-394.
http://dx.doi.org/10.1111/jop.12146
[16] Mutlu, N., Erdal, M.E., Herken, H., Ozkaya, M., Erdal, N., Oz, G., et al. (2005) Monoamine Oxidase-A Gene Promoter Polymorphism in Temporomandibular Joint Pain and Dysfunction. Pain Clinics, 17, 39-44.
[17] Planello, A.C., Campos, M.I., Meloto, C.B., Secolin, R., Rizatti-Barbosa, C.M., et al. (2011) Association of Matrix Metalloproteinase Gene Polymorphism with Temporomandibular Joint Degeneration. European Journal of Oral Sciences, 119, 1-6.
http://dx.doi.org/10.1111/j.1600-0722.2010.00803.x
[18] Ribeiro-Dasilva, M.C., Peres Line, S.R., dos Santos, M.C.L.G., Arthuri, M.T., Hou, W., Fillingim, R.B., et al. (2009) Estrogen Receptor-α Polymorphisms and Predisposition to TMJ Disorder. Journal of Pain, 10, 527-533.
http://dx.doi.org/10.1016/j.jpain.2008.11.012
[19] Kim, B.S., Kim, Y.K., Yun, P.Y., Lee, E. and Bae, J. (2010) The Effects of Estrogen Receptor α Polymorphism on the Prevalence of Symptomatic Temporomandibular Disorders. Journal of Oral and Maxillofacial Surgery, 68, 2975-2979.
http://dx.doi.org/10.1016/j.joms.2010.02.023
[20] Etoz, O.A., Erdal, M.E., Herken, H., Bayazit, Y.A. and Mutlu, M.N. (2006) Lack of Association between the 308GA Polymorphism of the Tumor Necrosis Factor α Gene and Temporomandibular Dysfunction. Pain Clinics, 18, 175-180.
[21] Helenius, L.M., Hallikainen, D., Helenius, I., Meurman, J.H., Koskimies, S., et al. (2004) HLA-DRB1* Alleles and Temporomandibular Joint Erosion in Patients with Various Rheumatic Diseases. Scandinavian Journal of Rheumatology, 33, 24-29.
http://dx.doi.org/10.1080/03009740310004603
[22] Yamaguchi, T., Nakaoka, H., Yamamoto, K., Fujikawa, T., Kim, Y.I., et al. (2014) Genome-Wide Association Study of Degenerative Bony Changes of the Temporomandibular Joint. Oral Diseases, 20, 409-415.
http://dx.doi.org/10.1111/odi.12141
[23] Ahmad, M., Hollender, L., Anderson, Q., Kartha, K., Ohrbach, R., et al. (2009) Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Development of Image Analysis Criteria and Examiner Reliability for Image Analysis. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 107, 844-860.
http://dx.doi.org/10.1016/j.tripleo.2009.02.023
[24] Schiffman, E., Ohrbach, R., Truelove, E., Look, J., Anderson, G., et al. (2014) Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: Recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Groupdagger. Journal of Oral & Facial Pain and Headache, 28, 6-27.
http://dx.doi.org/10.11607/jop.1151
[25] Jing, J., Hinton, R.J., Jing, Y., Liu, Y., Zhou, X. and Feng, J.Q. (2014) Osterix Couples Chondrogenesis and Osteogenesis in Post-Natal Condylar Growth. Journal of Dental Research, 93, 1014-1021.
http://dx.doi.org/10.1177/0022034514549379
[26] Ishizuka, Y., Shibukawa, Y., Nagayama, M., Decker, R., Kinumatsu, T., Saito, A., et al. (2014) TMJ Degeneration in SAMP8 Mice Is Accompanied by Deranged Ihh Signaling. Journal of Dental Research, 93, 281-287.
http://dx.doi.org/10.1177/0022034513519649
[27] Li, X.H., Liang, W.N., Ye, H.Z., Weng, X.P., Liu, F.Y. and Liu, X.X. (2014) Overexpression of Shox2 Leads to Congenital Dysplasia of the Temporomandibular Joint in Mice. International Journal of Molecular Sciences, 15, 13135-13150.
http://dx.doi.org/10.3390/ijms150813135
[28] Jiao, K., Zhang, M., Niu, L., Yu, S., Zhen, G., Xian, L., et al. (2014) Overexpressed TGF-β in Subchondral Bone Leads to Mandibular Condyle Degradation. Journal of Dental Research, 93, 140-147.
http://dx.doi.org/10.1177/0022034513513034
[29] Inman, K.E., Purcell, P., Kume, T. and Trainor, P.A. (2013) Interaction between Foxc1 and Fgf8 during Mammalian Jaw Patterning and in the Pathogenesis of Syngnathia. PLoS Genetics, 9, e1003949.
http://dx.doi.org/10.1371/journal.pgen.1003949
[30] Ricks, M.L., Farrell, J.T., Falk, D.J., Holt, D.W., Rees, M., Carr, J., et al. (2013) Osteoarthritis in Temporomandibular Joint of Col2a1 Mutant Mice. Archives of Oral Biology, 58, 1092-1099.
http://dx.doi.org/10.1016/j.archoralbio.2013.02.008
[31] Yasuda, T., Nah, H.D., Laurita, J., Kinumatsu, T., Shibukawa, Y., Shibutani, T., et al. (2012) Muenke Syndrome Mutation, FgfR3P244R, Causes TMJ Defects. Journal of Dental Research, 91, 683-689.
http://dx.doi.org/10.1177/0022034512449170
[32] Purcell, P., Jheon, A., Vivero, M.P., Rahimi, H., Joo, A. and Klein, O.D. (2012) Spry1 and Spry2 Are Essential for Development of the Temporomandibular Joint. Journal of Dental Research, 91, 387-393.
http://dx.doi.org/10.1177/0022034512438401
[33] Embree, M., Ono, M., Kilts, T., Walker, D., Langguth, J., Mao, J., et al. (2011) Role of Subchondral Bone during Early-Stage Experimental TMJ Osteoarthritis. Journal of Dental Research, 90, 1331-1338.
http://dx.doi.org/10.1177/0022034511421930
[34] Purcell, P., Joo, B.W., Hu, J.K., Tran, P.V., Calicchio, M.L., O’Connell, D.J., et al. (2009) Temporomandibular Joint Formation Requires Two Distinct Hedgehog-Dependent Steps. Proceedings of the National Academy of Sciences of the United States of America, 106, 18297-18302.
http://dx.doi.org/10.1073/pnas.0908836106
[35] Gu, S.P., Wei, N., Yu, L., Fei, J. and Chen, Y.P. (2008) Shox2-Deficiency Leads to Dysplasia and Ankylosis of the Temporomandibular Joint in Mice. Mechanisms of Development, 125, 729-742.
http://dx.doi.org/10.1016/j.mod.2008.04.003
[36] Shibukawa, Y., Young, B., Wu, C.S., Yamada, S., Long, F.X., Pacifici, M., et al. (2007) Temporomandibular Joint Formation and Condyle Growth Require Indian Hedgehog Signaling. Developmental Dynamics, 236, 426-434.
http://dx.doi.org/10.1002/dvdy.21036
[37] Meng, J.H., Ma, X.C., Ma, D.L. and Xu, C.M. (2005) Microarray Analysis of Differential Gene Expression in Temporomandibular Joint Condylar Cartilage after Experimentally Induced Osteoarthritis. Osteoarthritis & Cartilage, 13, 1115-1125.
http://dx.doi.org/10.1016/j.joca.2005.03.010
[38] Xu L, Flahiff, C.M., Waldman, B.A., Wu, D., Olsen, B.R., Setton, L.A., et al. (2003) Osteoarthritis-Like Changes and Decreased Mechanical Function of Articular Cartilage in the Joints of Mice with the Chondrodysplasia Gene (Cho). Arthritis & Rheumatism, 48, 2509-2518.
http://dx.doi.org/10.1002/art.11233
[39] Gu, S.P., Wu, W.J., Liu, C., Yang, L., Sun, C., Ye, W.D., et al. (2014) BMPRIA Mediated Signaling Is Essential for Temporomandibular Joint Development in Mice. PLoS ONE, 9, e101000.
http://dx.doi.org/10.1371/journal.pone.0101000
[40] Li, X.H., Liu, H.B., Gu, S.P., Liu, C., Sun, C., Zheng, Y.Q., et al. (2014) Replacing Shox2 with Human SHOX Leads to Congenital Disc Degeneration of the Temporomandibular Joint in Mice. Cell & Tissue Research, 355, 345-354.
http://dx.doi.org/10.1007/s00441-013-1743-2
[41] Wang, M., Li, S., Xie, W., Shen, J., Im, H.J., Holz, J.D., et al. (2014) Activation of β-Catenin Signalling Leads to Temporomandibular Joint Defects. European Cells & Materials, 28, 223-235.
[42] Meng, J.H., Ma, X.C., Li, Z.M. and Wu, D.C. (2007) Aquaporin-1 and Aquaporin-3 Expressions in the Temporomandibular joint Condylar Cartilage after an Experimentally Induced Osteoarthritis. Chinese Medical Journal, 120, 2191-2194.
[43] Yu, S., Sun, L., Liu, L., Jiao, K. and Wang, M. (2012) Differential Expression of IGF1, IGFR1 and IGFBP3 in Mandibular Condylar Cartilage between Male and Female Rats Applied with Malocclusion. Journal of Oral Rehabilitation, 39, 727-736.
[44] Asakawa-Tanne, Y., Su, S., Kunimatsu, R., Hirose, N., Mitsuyoshi, T., Okamoto, Y., et al. (2015) Effects of Enzymatic Degradation after Loading in Temporomandibular Joint. Journal of Dental Research, 94, 337-343.
http://dx.doi.org/10.1177/0022034514560588
[45] Ge, X.P., Ma, X.C., Meng, J.H., Zhang, C.G., Ma, K.T. and Zhou, C.Y. (2009) Role of Wnt-5A in Interleukin-1β-Induced Matrix Metalloproteinase Expression in Rabbit Temporomandibular Joint Condylar Chondrocytes. Arthritis & Rheumatism, 60, 2714-2722.
http://dx.doi.org/10.1002/art.24779

  
comments powered by Disqus

Copyright © 2019 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.