Derleme
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Darbeye Bağlı Olmayan Yumuşak Doku Yaralanmalarında Moleküler Yaklaşım

Yıl 2018, Cilt: 3 Sayı: 1, 15 - 25, 30.06.2018

Öz

önemli rol oynar. Darbeye bağlı olmayan sakatlıkların bireye özgü genetik analizlerinin bilinmesi,

sporcunun avantajlarını belirlemede ve üstesinden gelinmesi gereken dezavantajlarının saptanmasını

sağlayacaktır. Darbeye bağlı olmayan sakatlıklarda çevresel faktörlerin yanı sıra bireyin genetik

özelliklerinin etkili olduğu ifade edilmiştir. Hücrelerarası matriks proteinlerinden olan kolajen

molekülü ve biyosentezindeki bir çok genetik faktör bu konuda çalışılan en önemli genlerdir. COL1A1,

COL5A1, COL12A1, COL14A1, MMP3, TGFB1, GDF-5 ve TNC gen polimorfizmleri ise günümüzde

tendon yapısı bozuklukları ile ilişkilendirilebilen genlerin başında gelmektedir. Bu bilgiler ışığında

sakatlanma durumlarında uygun önlemler ile sakatlanma oranlarının azaltılması amaçlanmaktadır.

Bu derlemede, darbeye bağlı olmayan sakatlıkların genetik risk faktörlerinin litaratür taramaları

sunulmaktadır.

Kaynakça

  • Arya, S., Kulig, K. (2010). Tendinopathy alters mechanical and material properties of the Achilles tendon.J Appl Physiol., 108,670-675.
  • Birk, D.E. (2001). Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril
  • Birkedal-Hansen, H., Moore, W.G., Bodden, M.K., Windsor, L.J. (1993). Matrix metalloproteinases: a review. Crit Rev Oral Biol Medicine,4,197-250.
  • Brown, J.C., Miller, C.J., Posthumus, M., Schwellnus, M.P., Collins, M. (2011a). The COL5A1 Gene, Ultra-Marathon Running Performance, and Range of Motion. International Journal of Sports Physiology and Performance, 6(4), 485–496.
  • Brown, J.C., Miller, C.J., Schwellnus, M.P., Collins, M. (2011b).Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scandinavian Journal of Medicine and Science in Sports, 21(6), e266–e272.
  • Collins, M., Posthumus, M. (2011).Type V collagen genotype and exercise-related phenotype relationships:a novel hypothesis. Exercise and Sport Sciences Reviews, 39 (4), 191–198.
  • Collins, M., Mokone, G.G., September, A.V., Van der, Merwe L., Schwellnus, M.P.(2009).The COL5A1 genotype is associated with range of motion measurements. Scandinavian Journal of Medicine and Science in Sports, 19 (6), 803–810.
  • Cook, JL., Purdam, C.R. (2009). Is tendon pathology a continuum? A pathology model to explain the clinical presentation of load-induced tendinopathy. Br J Sports Medicine, 43,409-416.
  • Dai, J., Shi, D., Zhu, P., Qin, J., Ni, H., Xu, Y., Yao, C., Zhu, L., Zhu, H., Zhao, B., Wei, J., Liu, B., Ikegawa, S., Jiang, Q., Ding, Y. (2008).Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study. Arthritis Res Ther, 10(5),R126.
  • Dublet, B., Van der Rest, M. (1991). Type XIV collagen, a new homotrimeric molecule extracted from fetal bovine skin and tendon, with a triple helical disulfide-bonded domain homologous to type IX and type XII collagens. J Biol Chem,266, 6853-6858.
  • Eliasson, P., Fahlgren, A., Aspenberg, P. (2008). Mechanical load and BMP signaling during tendon repair:a role for follistatin? Clin Orthop Relat Resarch, 466,1592-1597.
  • Eroğlu, O., Zileli, R. (2015). Genetik Faktörlerin Sportif Performansa Etkisi. Uluslararası Spor, Egzersiz ve Antrenman Bilimi Dergisi, 1(1), 63-76.
  • Grahame, R. (2009).Joint hypermobility syndrome pain. Current Pain and Headache Reports,13 (6), 427–433.
  • Gordon, M.K, Gerecke, D.R, Olsen, B.R.(1987). Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning. Proc Natl Acad Sci USA, 84(17),6040-6044.
  • Hoffmann, A., Gross, G. (2007). Tendon and ligament engineering in the adult organism: mesenchymal stem cells and gene-therapeutic approaches. Int Orthop, 31, 791-797.
  • Jones FS, Jones PL.(2008). The tenascin family of ECM glycoproteins: structure, function, and regulation during embryonic development and tissue remodeling. Dev Dyn, 218,235-259.
  • Khoschnau, S., Melhus, H., Jacobson, A., Rahme, H., Bengtsson, H., Ribom, E., Grundberg, E., Mallmin, H., Michaelsson, K. (2008).Type I collagen alpha1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Medicine, 36 (12),2432–2436.
  • Kubo, K., Yata, H., Tsunoda, N. (2013). Effect of gene polymorphisms on the mechanical properties of human tendon structures. Springer Plus,2 (1), 343.
  • Kujala, U.M, Jarvinen, M., Natri, A., Lehto, M., Nelimarkka, O., et al. (1992). ABO blood groups and musculoskeletal injuries. Injury,23,131-133.
  • Lodish, H., Berk, A., Zipursky, S.L., Matsudaira, P., Baltimore, D., Darnell, J. (2000).Molecular Cell Biology, 4th ed. New York, NY, WH Freeman and Company.
  • Longo, U.G, Fazio, V., Poeta, M.L., Rabitti, C., Franceschi, F., Maffulli, N., Denaro, V. (2010). Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surg Sports Traumatol Arthrosc, 18,514-518.
  • Maffulli, N., Reaper, JA., Waterston. SW, Ahya. T.(2000). ABO blood groups and achilles tendon rupture in the Grampian Region of Scotland. Clin J Sport Medicine, 10,269-271.
  • Malila, S., Yuktanandana, P., Saowaprut, S., Jiamjarasrangsi, W., Honsawek, S. (2011) Associationbetween matrix metalloproteinase – 3 polymorphism and anterior cruciate ligament ruptures. Genet Mol Res, 10(4),4158-4165.
  • Malfait, F., Wenstrup, R.J., De, P.A.(A.(2010). Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetic Medicine,12 (10),597–605.
  • Maffulli, N., Reaper, JA., Waterston. SW, Ahya. T.(2000). ABO blood groups and achilles tendon rupture in the Grampian Region of Scotland. Clin J Sport Medicine, 10,269-271.
  • Mann, V., Hobson, E.E., Li, B., Stewart, T.L., Grant, S.F., Robins, S.P., Aspden, R.M., Ralston,S.H.(2001).A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J. Clinic Invest, 107 (7), 899–907.
  • Mokone, G.G., Gajjar, M., September, A.V., Schwellnus, M.P., Greenberg, J, Noakes TD, Collins M.(2005). The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injuries. Am J Sports Medicine, 33,1016-1021.
  • Mokone, G.G., Schwellnus, M.P., Noakes, T.D., Collins, M. (2006). The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports,16(1),19-26.
  • Myllyharju, J., Kivirikko, K.I. (2004). Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genetic, 20, 33-43.
  • O’Connell, K., Posthumus, M., Schwellnus, M.P., Collins, M. (2013). Collagen genes and exerciseassociated muscle cramping. Clin J Sport Medicine, 23 (1), 64–69.
  • Posthumus, M., September, A. V, O’Cuinneagain. D, van der Merwe. W., Schwellnus. M.P, Collins. M. (2009). The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. Am J Sports Medicine, 37, 2234-2240.
  • Posthumus, M, September, A.V., Keegan, M, O’Cuinneagain, D., Van der Merwe, W., Schwellnus, M.P., Collins, M.(2009a). Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. Br J Sports Medicine, 43,352-356.
  • Posthumus, M., September, A.V., Schwellnus, M.P., Collins, M. (2009b). Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. J. Sci. Med. Sport, 12 (1), 184–189.
  • Posthumus M., Schwellnus M.P., Collins M. (2011).The COL5A1 gene: a novel marker of endurance running performance. Medicine and Science in Sports and Exercise, 43 (4),584–589.
  • Posthumus M, Collins M, Cook J, Handley CJ, Ribbans WJ.(2010). Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology – a genetic association study. Rheumatology (Oxford) 49,2090-2097.
  • Posthumus M, September AV, O’Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. (2010). The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Medicine, 44,1160-1165.
  • Raleigh, S.M., van der Merwe, L., Ribbans, W.J., Smith, R.K., Schwellnus, M.P., Collins, M. (2009). Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. Br J Sports Med, 43,514-520.
  • Rees, J.D, Wilson, A.M., Wolman, R.L.(2006). Current conceptsin the management of tendon disorders,Rheumatology, 45,508-521.
  • Ricard-Blum, S., Ruggiero, F.(2005). The collagen superfamily: from the extracellular matrix to the cell membrane. Pathol Biol, 53(7), 430-442.
  • Rocchi, M., Archidiacono, N., Romeo, G., Saginati, M., Zardi, L. (1991). Assignment of the gene for human tenascin to the region q32-q34 of chromosome 9. Human Genetic, 86,621-623.
  • September, A.V., Cook, J., Handley, C.J, van der Merwe, L., Schwellnus, M.P., Collins M. (2009). Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Medicine, 43,357-365.
  • September AV, Posthumus M, van der Merwe L, Schwellnus M, Noakes TD, Collins M. (2008). The COL12A1 and COL14A1 genes and Achilles tendon injuries. Int J Sports Medicine, 29,257-263.
Yıl 2018, Cilt: 3 Sayı: 1, 15 - 25, 30.06.2018

Öz

Kaynakça

  • Arya, S., Kulig, K. (2010). Tendinopathy alters mechanical and material properties of the Achilles tendon.J Appl Physiol., 108,670-675.
  • Birk, D.E. (2001). Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril
  • Birkedal-Hansen, H., Moore, W.G., Bodden, M.K., Windsor, L.J. (1993). Matrix metalloproteinases: a review. Crit Rev Oral Biol Medicine,4,197-250.
  • Brown, J.C., Miller, C.J., Posthumus, M., Schwellnus, M.P., Collins, M. (2011a). The COL5A1 Gene, Ultra-Marathon Running Performance, and Range of Motion. International Journal of Sports Physiology and Performance, 6(4), 485–496.
  • Brown, J.C., Miller, C.J., Schwellnus, M.P., Collins, M. (2011b).Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scandinavian Journal of Medicine and Science in Sports, 21(6), e266–e272.
  • Collins, M., Posthumus, M. (2011).Type V collagen genotype and exercise-related phenotype relationships:a novel hypothesis. Exercise and Sport Sciences Reviews, 39 (4), 191–198.
  • Collins, M., Mokone, G.G., September, A.V., Van der, Merwe L., Schwellnus, M.P.(2009).The COL5A1 genotype is associated with range of motion measurements. Scandinavian Journal of Medicine and Science in Sports, 19 (6), 803–810.
  • Cook, JL., Purdam, C.R. (2009). Is tendon pathology a continuum? A pathology model to explain the clinical presentation of load-induced tendinopathy. Br J Sports Medicine, 43,409-416.
  • Dai, J., Shi, D., Zhu, P., Qin, J., Ni, H., Xu, Y., Yao, C., Zhu, L., Zhu, H., Zhao, B., Wei, J., Liu, B., Ikegawa, S., Jiang, Q., Ding, Y. (2008).Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study. Arthritis Res Ther, 10(5),R126.
  • Dublet, B., Van der Rest, M. (1991). Type XIV collagen, a new homotrimeric molecule extracted from fetal bovine skin and tendon, with a triple helical disulfide-bonded domain homologous to type IX and type XII collagens. J Biol Chem,266, 6853-6858.
  • Eliasson, P., Fahlgren, A., Aspenberg, P. (2008). Mechanical load and BMP signaling during tendon repair:a role for follistatin? Clin Orthop Relat Resarch, 466,1592-1597.
  • Eroğlu, O., Zileli, R. (2015). Genetik Faktörlerin Sportif Performansa Etkisi. Uluslararası Spor, Egzersiz ve Antrenman Bilimi Dergisi, 1(1), 63-76.
  • Grahame, R. (2009).Joint hypermobility syndrome pain. Current Pain and Headache Reports,13 (6), 427–433.
  • Gordon, M.K, Gerecke, D.R, Olsen, B.R.(1987). Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning. Proc Natl Acad Sci USA, 84(17),6040-6044.
  • Hoffmann, A., Gross, G. (2007). Tendon and ligament engineering in the adult organism: mesenchymal stem cells and gene-therapeutic approaches. Int Orthop, 31, 791-797.
  • Jones FS, Jones PL.(2008). The tenascin family of ECM glycoproteins: structure, function, and regulation during embryonic development and tissue remodeling. Dev Dyn, 218,235-259.
  • Khoschnau, S., Melhus, H., Jacobson, A., Rahme, H., Bengtsson, H., Ribom, E., Grundberg, E., Mallmin, H., Michaelsson, K. (2008).Type I collagen alpha1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Medicine, 36 (12),2432–2436.
  • Kubo, K., Yata, H., Tsunoda, N. (2013). Effect of gene polymorphisms on the mechanical properties of human tendon structures. Springer Plus,2 (1), 343.
  • Kujala, U.M, Jarvinen, M., Natri, A., Lehto, M., Nelimarkka, O., et al. (1992). ABO blood groups and musculoskeletal injuries. Injury,23,131-133.
  • Lodish, H., Berk, A., Zipursky, S.L., Matsudaira, P., Baltimore, D., Darnell, J. (2000).Molecular Cell Biology, 4th ed. New York, NY, WH Freeman and Company.
  • Longo, U.G, Fazio, V., Poeta, M.L., Rabitti, C., Franceschi, F., Maffulli, N., Denaro, V. (2010). Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surg Sports Traumatol Arthrosc, 18,514-518.
  • Maffulli, N., Reaper, JA., Waterston. SW, Ahya. T.(2000). ABO blood groups and achilles tendon rupture in the Grampian Region of Scotland. Clin J Sport Medicine, 10,269-271.
  • Malila, S., Yuktanandana, P., Saowaprut, S., Jiamjarasrangsi, W., Honsawek, S. (2011) Associationbetween matrix metalloproteinase – 3 polymorphism and anterior cruciate ligament ruptures. Genet Mol Res, 10(4),4158-4165.
  • Malfait, F., Wenstrup, R.J., De, P.A.(A.(2010). Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genetic Medicine,12 (10),597–605.
  • Maffulli, N., Reaper, JA., Waterston. SW, Ahya. T.(2000). ABO blood groups and achilles tendon rupture in the Grampian Region of Scotland. Clin J Sport Medicine, 10,269-271.
  • Mann, V., Hobson, E.E., Li, B., Stewart, T.L., Grant, S.F., Robins, S.P., Aspden, R.M., Ralston,S.H.(2001).A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J. Clinic Invest, 107 (7), 899–907.
  • Mokone, G.G., Gajjar, M., September, A.V., Schwellnus, M.P., Greenberg, J, Noakes TD, Collins M.(2005). The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injuries. Am J Sports Medicine, 33,1016-1021.
  • Mokone, G.G., Schwellnus, M.P., Noakes, T.D., Collins, M. (2006). The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports,16(1),19-26.
  • Myllyharju, J., Kivirikko, K.I. (2004). Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genetic, 20, 33-43.
  • O’Connell, K., Posthumus, M., Schwellnus, M.P., Collins, M. (2013). Collagen genes and exerciseassociated muscle cramping. Clin J Sport Medicine, 23 (1), 64–69.
  • Posthumus, M., September, A. V, O’Cuinneagain. D, van der Merwe. W., Schwellnus. M.P, Collins. M. (2009). The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. Am J Sports Medicine, 37, 2234-2240.
  • Posthumus, M, September, A.V., Keegan, M, O’Cuinneagain, D., Van der Merwe, W., Schwellnus, M.P., Collins, M.(2009a). Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. Br J Sports Medicine, 43,352-356.
  • Posthumus, M., September, A.V., Schwellnus, M.P., Collins, M. (2009b). Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. J. Sci. Med. Sport, 12 (1), 184–189.
  • Posthumus M., Schwellnus M.P., Collins M. (2011).The COL5A1 gene: a novel marker of endurance running performance. Medicine and Science in Sports and Exercise, 43 (4),584–589.
  • Posthumus M, Collins M, Cook J, Handley CJ, Ribbans WJ.(2010). Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology – a genetic association study. Rheumatology (Oxford) 49,2090-2097.
  • Posthumus M, September AV, O’Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. (2010). The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Medicine, 44,1160-1165.
  • Raleigh, S.M., van der Merwe, L., Ribbans, W.J., Smith, R.K., Schwellnus, M.P., Collins, M. (2009). Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. Br J Sports Med, 43,514-520.
  • Rees, J.D, Wilson, A.M., Wolman, R.L.(2006). Current conceptsin the management of tendon disorders,Rheumatology, 45,508-521.
  • Ricard-Blum, S., Ruggiero, F.(2005). The collagen superfamily: from the extracellular matrix to the cell membrane. Pathol Biol, 53(7), 430-442.
  • Rocchi, M., Archidiacono, N., Romeo, G., Saginati, M., Zardi, L. (1991). Assignment of the gene for human tenascin to the region q32-q34 of chromosome 9. Human Genetic, 86,621-623.
  • September, A.V., Cook, J., Handley, C.J, van der Merwe, L., Schwellnus, M.P., Collins M. (2009). Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Medicine, 43,357-365.
  • September AV, Posthumus M, van der Merwe L, Schwellnus M, Noakes TD, Collins M. (2008). The COL12A1 and COL14A1 genes and Achilles tendon injuries. Int J Sports Medicine, 29,257-263.
Toplam 42 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm 2018 Haziran
Yazarlar

Başak Funda Eken Bu kişi benim

Canan Sercan Bu kişi benim

Defne Kaya

Korkut Ulucan

Yayımlanma Tarihi 30 Haziran 2018
Yayımlandığı Sayı Yıl 2018 Cilt: 3 Sayı: 1

Kaynak Göster

APA Eken, B. F., Sercan, C., Kaya, D., Ulucan, K. (2018). Darbeye Bağlı Olmayan Yumuşak Doku Yaralanmalarında Moleküler Yaklaşım. Eurasian Research in Sport Science, 3(1), 15-25.