ЧТО ЖЕ ТАКОЕ ИДИОПАТИЧЕСКИЙ СКОЛИОЗ?
Аннотация
В лекции на основе многолетнего опыта исследований рассмотрены спорные вопросы о деформации позвоночника и сделаны некоторые обобщения. Дано определение сколиотической болезни. Это нарушение морфогенеза позвоночника в раннем эмбриогенезе, реализуемое на стадии роста в деформацию позвоночника с клиническими вариантами течения, зависящими от степени нарушения морфогенеза. Эктопическая локализация в пластинке роста тел позвонков клеток, производных нервного гребня, генетически не детерминированных к хондрогенезу и процессу роста - этиологический фактор сколиотической болезни. Локальное нарушение хондрогенеза в пластинке роста тел позвонков - причина асимметрии роста и формирования деформации позвоночника. Вариабельность структурных изменений и прогноз прогрессирования зависят от степени нарушения морфогенетических процессов, заложенных в эмбриогенезе. Фенотип сколиотического позвоночника - первичная сколиотическая, кифотическая деформация позвоночника с вариантами течения, зависящими от стадии болезни. Перспектива исследований: создание экспериментальной модели сколиотической болезни с клиническими вариантами течения и разработка превентивной коррекции исследуемой патологии.
Об авторе
Алла Михайловна Зайдман
Новосибирский НИИ травматологии и ортопедии им. Я.Л. Цивьяна
Россия
Россия
Список литературы
1. Нидхэм Д. История эмбриологии. М., 1947.
2. Зайдман А.М. Адаптационные формообразовательные механизмы в структурах позвоночника при сколиотической болезни // Хирургия позвоночника. 2011. № 3: С. 89-98. DOI: http://dx.doi.org/10.14531/ss2011.3.89-98.
3. Зайдман А.М. Идиопатический сколиоз. Морфология, биохимия, генетика. Новосибирск, 1993.
4. Зайдман А.М., Михайловский М.В., Садовой М.А. Нейрофиброматоз и сколиоз. Новосибирск, 2011.
5. Цивьян Я.Л., Зайдман А.М. Морфогенез сколиоза. Новосибирск, 1978.
6. Бородин П.М. Кошки и гены. М., 2009.
7. Михайловский М.В., Фомичев Н.Г. Хирургия деформаций позвоночника. Новосибирск, 2011.
8. Кнорре А.Г. Эмбриональный гистогенез. Л., 1971.
9. Карлсон Б.М. Основы эмбриологии по Пэттену. М., 1983.
10. Токин Б.П. Общая эмбриология. М., 1977.
11. Gorman KF, Julien C, Moreau A. The genetic epidemiology of idiopathic scoliosis. Eur Spine J. 2012;21:1905-1919. DOI: 10.1007/s00586-012-2389-6.
12. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med. 2002;4:45-61.
13. Yu W, Gwinn M, Clyne M, Yesupriya A, Khoury MJ. A navigator for human genome epidemiology. Nat Genet. 2008;40:124-125. DOI: 10.1038/ng0208-124.
14. Carr AJ, Ogilvie DJ, Wordsworth BP, Priestly LM, Smith R, Sykes B. Segregation of structural collagen genes in adolescent idiopathic scoliosis. Clin Orthop Relat Res. 1992;(274):305-310.
15. Miller NH, Mims B, Child A, Milewicz DM, Sponseller P, Blanton SH. Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis. J Orthop Res. 1996;14:994-999. DOI: 10.1002/jor.1100140621.
16. Zorkol’tseva IV, Liubinskii OA, Sharipov RN, Zaidman AM, Aksenovich TI, Dymshits GM. [Analysis of polymorphism of the number of tandem repeats in the aggrecan gene exon G3 in the families with idiopathic scoliosis]. Genetika. 2002;38:259-263.
17. Morcuende JA, Minhas R, Dolan L, Stevens J, Beck J, Wang K, Weinstein SL, Sheffield V. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. Spine. 2003;28:2025-2028. DOI: 10.1097/01.BRS.0000083235.74593.49.
18. Marosy B, Justice CM, Nzegwu N, Kumar G, Wilson AF, Miller NH. Lack of association between the aggrecan gene and familial idiopathic scoliosis. Spine. 2006;31:1420-1425. DOI: 10.1097/01.brs.0000219944.18223.52.
19. Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. Scoliosis. 2006;1:21. DOI: 10.1186/1748-7161-1-21.
20. Chen Q, Zhang Y, Johnson DM, Goetinck PF. Assembly of a novel cartilage matrix protein filamentous network: molecular basis of differential requirement of von Willebrand factor A domains. Mol Biol Cell. 1999;10:2149-2162.
21. The International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789-796. [Electronic resource]. URL: http://www.nature.com/nature/journal/v426/n6968/full/nature02168.html.
22. Chen Z, Tang NL, Cao X, Qiao D, Yi L, Cheng JC, Qiu Y. Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population. Eur J Hum Genet. 2009;17:525-532. DOI: 10.1038/ejhg.2008.203.
23. Takahashi Y, Matsumoto M, Karasugi T, Watanabe K, Chiba K, Kawakami N, Tsuji T, Uno K, Suzuki T, Ito M, Sudo H, Minami S, Kotani T, Kono K, Yanagida H, Taneichi H, Takahashi A, Toyama Y, Ikegawa S. Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population. J Orthop Res. 2011;29:1055-1058. DOI: 10.1002/jor.21347.
24. McGregor TL, Gurnett CA, Dobbs MB, Wise CA, Morcuende JA, Morgan TM, Menon R, Muglia LJ. Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype. BMC Med Genet. 2011;12:92. DOI: 10.1186/1471-2350-12-92.
25. Van den Wijngaard A, Pijpers MA, Joosten PH, Roelofs JM, Van zoelen EJ, Olijve W. Functional characterization of two promoters in the human bone morphogenetic protein-4 gene. J Bone Miner Res. 1999;14:1432-1441.
26. Van den Wijngaard A, Mulder WR, Dijkema R, Boersma CJ, Mosselman S, van Zoelen EJ, Olijve W. Antiestrogens specifically up-regulate bone morphogenetic protein-4 promoter activity in human osteoblastic cells. Mol Endocrinol. 2000;14:623-633. DOI: 10.1210/me.14.5.623.
27. Kindsfater K, Lowe T, Lawellin D, Weinstein D, Akmakjian J. Levels of platelet calmodulin for the prediction of progression and severity of adolescent idiopathic scoliosis. J Bone Joint Surg Am. 1994;76:1186-1192.
28. Lowe TG, Burwell RG, Dangerfield PH. Platelet calmodulin levels in adolescent idiopathic scoliosis (AIS): can they predict curve progression and severity? Eur Spine J. 2004;13:257-265. DOI: 10.1007/s00586-003-0655-3.
29. Inoue M, Minami S, Nakata Y, Takaso M, Otsuka Y, Kitahara H, Isobe K, Kotani T, Maruta T, Moriya H. Prediction of curve progression in idiopathic scoliosis from gene polymorphic analysis. Stud Health Technol Inform. 2002;91:90-96.
30. Liu Z, Tang NL, Cao XB, Liu WJ, Qiu XS, Cheng JC, Qiu Y. Lack of association between the promoter polymorphisms of MMP-3 and IL-6 genes and adolescent idiopathic scoliosis: a case-control study in a Chinese Han population. Spine. 2010;35:1701-1705. DOI: 10.1097/BRS.0b013e3181c6ba13.
31. Morocz M, Czibula A, Grozer ZB, Szecsenyi A, Almos PZ, Rasko I, Illes T. Association study of BMP4, IL6, Leptin, MMP3, and MTNR1B gene promoter polymorphisms and adolescent idiopathic scoliosis. Spine. 2011;36:E123-E130. DOI: 10.1097/BRS.0b013e318a511b0e.
32. Yu DM, Wang XM, McCaughan GW, Gorrell MD. Extraenzymatic functions of the dipeptidyl peptidase IV-related proteins DP8 and DP9 in cell adhesion, migration and apoptosis. FEBS J. 2006;273:2447-2460. DOI: 10.1111/j.1742-4658.2006.05253.x.
33. Chan V, Fong GC, Luk KD, Yip B, Lee MK, Wong MS, Lu DD, Chan TK. A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Am J Hum Genet. 2002;71:401-406. DOI: 10.1086/341607.
34. Machida M, Dubousset J, Imamura Y, Iwaya T, Yamada T, Kimura J. Role of melatonin deficiency in the development of scoliosis in pinealectomized chickens. J Bone Joint Surg Br. 1995;77:134-138.
35. Machida M, Dubousset J, Imamura Y, Iwaya T, Yamada T, Kimura J, Toriyama S. Pathogenesis of idiopathic scoliosis: SEPs in chicken with experimentally induced scoliosis and in patients with idiopathic scoliosis. J Pediatr Orthop. 1994;14:329-335. DOI: 10.1097/01241398-199405000-00010.
36. Girardo M, Bettini N, Dema E, Cervellati S. The role of melatonin in the pathogenesis of adolescent idiopathic scoliosis (AIS). Eur Spine J. 2011;20 Suppl 1:S68-S74. DOI: 10.1007/s00586-011-1750-5.
37. Shyy W, Wang K, Gurnett CA, Dobbs MB, Miller NH, Wise C, Sheffield VC, Morcuende JA. Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis. J Pediatr Orthop. 2010;30:539-543. DOI: 10.1097/BPO.0b013e3181e7902c.
38. Varghese S. Matrix metalloproteinases and their inhibitors in bone: an overview of regulation and functions. Front Biosci. 2006;11:2949-2966.
39. Ortega N, Behonick DJ, Werb Z. Matrix remodeling during endochondral ossification. Trends Cell Biol. 2004;14:86-93. DOI: 10.1016/j.tcb.2003.12.003.
40. Brew K, Dinakarpandian D, Nagase H. Tissue inhibitors of metalloproteinases: evolution, structure and function. Biochim Biophys Acta. 2000;1477:267-283. DOI: 10.1016/S0167-4838(99)00279-4.
41. Gomez DE, Alonso DF, Yoshiji H, Thorgeirsson UP. Tissue inhibitors of metalloproteinases: structure, regulation and biological functions. Eur J Cell Biol. 1997;74:111-122.
42. Ocaka L, Zhao C, Reed JA, Ebenezer ND, Brice G, Morley T, Mehta M, O’Dowd J, Weber JL, Hardcastle AJ, Child AH. Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel. J Med Genet. 2008;45:87-92. DOI: 10.1136/jmg.2007.051896.
43. Jiang J, Qian B, Mao S, Zhao Q, Qiu X, Liu Z, Qiu Y. A promoter polymorphism of tissue inhibitor of metalloproteinase-2 gene is associated with severity of thoracic adolescent idiopathic scoliosis. Spine. 2012;37:41-47. DOI: 10.1097/BRS.0b013e31820e71e3.
44. Aulisa L, Papaleo P, Pola E, Angelini F, Aulisa AG, Tamburrelli FC, Pola P, Logroscino CA. Association between IL-6 and MMP-3 gene polymorphisms and adolescent idiopathic scoliosis: a case-control study. Spine. 2007;32:2700-2702. DOI: 10.1097/BRS.0b013e31815a5943.
45. Compston JE. Sex steroids and bone. Physiol Rev. 2001;81:419-447.
46. Lambertini E, Penolazzi L, Giordano S, Del Senno L, Piva R. Expression of the human oestrogen receptor-alpha gene is regulated by promoter F in MG-63 osteoblastic cells. Biochem J. 2003;372:831-839. DOI: 10.1042/BJ20021633.
47. Wu J, Qiu Y, Zhang L, Sun Q, Qiu X, He Y. Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Spine. 2006;31:1131-1136. DOI: 10.1097/01.brs.0000216603.91330.6f.
48. Takahashi Y, Matsumoto M, Karasugi T, Watanabe K, Chiba K, Kawakami N, Tsuji T, Uno K, Suzuki T, Ito M, Sudo H, Minami S, Kotani T, Kono K, Yanagida H, Taneichi H, Takahashi A, Toyama Y, Ikegawa S. Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes. J Orthop Res. 2011;29:834-837. DOI: 10.1002/jor.21322.
49. Sims NA, Clement-Lacroix P, Minet D, Fraslon-Vanhulle C, Gaillard-Kelly M, Resche-Rigon M, Baron R. A functional androgen receptor is not sufficient to allow estradiol to protect bone after gonadectomy in estradiol receptor-deficient mice. J Clin Invest. 2003;111:1319-1327. DOI: 10.1172/JCI200317246.
50. Yang Y, Wu Z, Zhao T, Wang H, Zhao D, Zhang J, Wang Y, Ding Y, Qiu G. Adolescent idiopathic scoliosis and the single-nucleotide polymorphism of the growth hormone receptor and IGF-1 genes. Orthopedics. 2009;32:411. DOI: 10.3928/01477447-20090511-08.
51. Alden KJ, Marosy B, Nzegwu N, Justice CM, Wilson AF, Miller NH. Idiopathic scoliosis: identification of candidate regions on chromosome 19p13. Spine. 2006;31:1815-1819. DOI: 10.1097/01.brs.0000227264.23603.dc.
52. Qiu XS, Tang NL, Yeung HY, Qiu Y, Cheng JC. Association study between adolescent idiopathic scoliosis and the DPP9 gene which is located in the candidate region identified by linkage analysis. Postgrad Med J. 2008;84(995):498-501. DOI: 10.1136/pgmj.2007.066639.
53. Canalis E, Economides AN, Gazzerro E. Bone morphogenetic proteins, their antagonists, and the skeleton. Endocr Rev. 2003;24:218-235. DOI: 10.1210/er.2002-0023.
54. Williams JP, Micoli K, McDonald JM. Calmodulin-an often-ignored signal in osteoclasts. Ann N Y Acad Sci. 2010;1192:358-364. DOI: 10.1111/j.1749-6632.2009.05242.x.
55. Lowe TG, Edgar M, Margulies JY, Miller NH, Raso VJ, Reinker KA, Rivard CH. Etiology of idiopathic scoliosis: current trends in research. J Bone Joint Surg Am. 2000;82:1157-1168.
56. Zaidman AM, Zaidman MN, Strokova EL, Lebedeva AO, Laktionov PP, Sadovoy MA. Analysis of expression of candidate genes - an etiologic factor of idiopathic scoliosis. Spine. In Press.
57. Zaydman AM, Strokova EL, Kiseleva EV, Ageeva TA, Suldina LA, Strunov AA, Shevchenko AI. Ectopic localization of neural crest cells is the main etiological factor for scoliotic disease. Spine. Manuscript submitted for publication.
58. Pattway Z, Domowicz M, Schwartz NB, Bronner-Fraser M. Age-dependent inhibition of neural crest migration by the notochord correlates with alteration in the S103L chondroitin sulfate proteoglycan. Exp Cell Res. 1996;255:195-206. DOI: 10.1006/excr.1996.0170.
59. Bundy J, Rogers R, Hoffman S, Conway SJ. Segmental expression of aggrecan in the non-segmented perinotochordal sheath underlies normal segmentation of the vertebral column. Mech Dev. 1998;79:213-217.
60. Bronner-Fraser M, Garcнa-Castro M. Manipulations of neural crest cells or their migratory pathways. Methods Cell Biol. 2008;87:75-96. DOI: 10.1016/S0091-679X(08)00204-5.
61. Erickson CA, Perris R. The role of cell-cell and cell-matrix interactions in the morphogenesis of the neural crest. Dev Biol. 1993;159:60-74. DOI: 10.1006/dbio.1993.1221.
62. McGonnell IM, Graham A. Trunk neural crest has skeletogenic potential. Curr Biol. 2002;12:767-771. DOI: 10.1016/S0960-9822(02)00818-7.
63. Peris R, Perissinotto D. Role of the extracellular matrix during neural crest cell migration. Mech Dev. 2000;95:3-21. DOI: 10.1016/S0925-4773(00)00365-8.
64. Logan M, Martin JF, Nagy A, Lobe C, Olson EN, Tabin CJ. Expression of Cre recombinase in the developing mouse limb but driven by Prxl enhancer. Genesis. 2002;33:77-80.
65. Krull CE. Inhibitory interactions in the patterning of trunk neural crest migration. Ann N Y Acad Sci. 1998;857:13-22. DOI: 10.1111/j.1749-6632.1998.tb10103.x.
66. Roffers-Agarwal J, Gammill LS. Neuropilin receptors guide distinct phases of sensory and motor neuronal segmentation. Development. 2009;136:1879-1888. DOI: 10.1242/dev.032920.
67. Krull CE, Collazo A, Fraser SE, Bronner-Fraser M. Segmental migration of trunk neural crest: time-lapse analysis reveals a role for PNA-binding molecules. Development. 1995;121:3733-3743.
68. Teillet MA, Kalcheim C, Le Douarin NM. Formation of the dorsal root ganglia in the avian embryo: segmental origin and migratory behavior of neural crest progenitor cells. Dev Biol. 1987;120:329-347. DOI: 10.1016/0012-1606(87)90236-3.
Для цитирования:
Зайдман А.М. ЧТО ЖЕ ТАКОЕ ИДИОПАТИЧЕСКИЙ СКОЛИОЗ? "Хирургия позвоночника". 2016;13(4):104-110. https://doi.org/10.14531/ss2016.4.104-110
For citation:
Zaidman A.M. WHAT IS IDIOPATHIC SCOLIOSIS? Hirurgiâ pozvonočnika (Spine Surgery). 2016;13(4):104-110. (In Russ.) https://doi.org/10.14531/ss2016.4.104-110
Просмотров: 156
Послать статью по эл. почте 