神经管畸形的影响因素及相关发病机制研究进展

doi:10.11852/zgetbjzz2018-26-11-10

摘要/Abstract

摘要： 神经管畸形(NTDs)是严重的先天性畸形之一,起源于胚胎发生过程,是神经管闭合过程异常的结果。其发病由多种因素引起,包括遗传因素、环境因素以及遗传与环境之间的相互作用等,叶酸的补充虽可降低其发病率,但机制尚不完全明确,并且NTDs的发生也与其他因素相关。本文就神经管畸形的影响因素及相关发病机制研究进展作一综述。

关键词: 神经管畸形, 遗传, 环境, 机制, 研究进展

Abstract: Neural tube defects (NTDs) are severe congenital malformations that originated in the process of embryogenesis, and are the result of an abnormal process of neural tube closure. NTDs are caused by multiple factors, including genetic factors, environmental factors, and the interaction between genetics and the environment. Folic acid supplementation may reduce the incidence, but the mechanism is not yet clear, and the occurrence of NTDs is also related to other factors. This review summarizes research progress on the factors associated with NTDs and the related pathogenesis mechanism.

Key words: neural tube defects, gene, environment, mechanism, research progress

中图分类号:

R179

姜春倩,李艳萍,郭霜,宋迎冬,徐丁. 神经管畸形的影响因素及相关发病机制研究进展[J]. 中国儿童保健杂志, 2018, 26(11): 1199-1202.

JIANG Chun-qian, LI Yan-ping, GUO Shuang, SONG Ying-dong, XU Ding. Research progress on the influencing factors and related pathogenesis mechanism of neural tube defects[J]. journal1, 2018, 26(11): 1199-1202.

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参考文献

[1] Molloy AM, Pangilinan F, Brody LC. Genetic risk factors for folate responsive neural tube defects[J].Annu Rev Nutr,2017,37(1):269-291.
[2] Greene ND, Copp AJ. Neural tubedefects[J].Annu Rev Neurosci,2014,37(11):221-242.
[3] Goodrich LV, Strutt D. Principles of planar polarity in animal development[J].Development,2011,138(10):1877-1892.
[4] 李云飞, 管英俊, 于丽. Wnt信号通路与神经管缺陷关系的研究进展[J].神经解剖学杂志, 2009, 25(2):236-238.
[5] de MP, Merell E, Cama A, et al. Human neural tube defects:genetic causes andprevention[J].Biofactors, 2011,37(4):261-268.
[6] Simons M, Mlodzik M. Planar cell polarity signaling:from fly development to humandisease[J].Annu Rev Genet, 2008,42(1):517-540.
[7] Juriloff DM, Harris MJ. A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tubedefects[J].Birth Defects Res, 2012,94(10):824-840.
[8] Chandler AL, Hobbs CA, Mosley BS, et al. Neural tube defects and maternal intake of micronutrients related to one-carbon metabolism or antioxidant activity[J].Birth Defects Res,2012,94(11):864-874.
[9] Patrizia DM, Elisa M, Alessandro C, et al. Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects[J].J Mol Neurosci, 2013,49(3):582-588.
[10] Lei YP, Zhang T, Li H, et al. VANGL2 mutations in human cranial neural-tubedefects[J].N Engl J Med, 2010,362(23):2232-2235.
[11] Robinson A, Escuin S, Doudney K, et al. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis[J].Hum Mutat, 2012,33(2):440-447.
[12] Nishimura T, Honda H, Takeichi M. Planar cell polarity links axes of spatial dynamics in neural-tube closure[J].Cell, 2012,149(5):1084-1097.
[13] Marco PD, Merello E, Rrossi A, et al. FZD6 is a novel gene for human neural tube defects[J].Hum Mutat, 2012,33(2):384-390.
[14] Wang L, Xiao Y, Tian T, et al. Digenic variants of planar cell polarity genes in human neural tube defect patients[J].Mol Genet Metab,2018,124(1):94-100
[15] Crider KS, Bailey LB, Berry RJ. Folic acid food fortification—its history, effect, concerns, and future directions[J].Nutrients,2011,3(3):370-384.
[16] Beaudin AE, Stover PJ. Insights into metabolic mechanisms underlying folate-responsive neural tube defects:aminireview[J].Birth Defects Res, 2009,85(4):274-284.
[17] Yamada K, Chen Z, Rozen R, et al. Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolatereductase[J].Proc Natl Acad Sci USA, 2001,98(26):14853-14858.
[18] Au KS, Findley TO, Northrup H. Finding the genetic mechanisms of folate deficiency and neural tube defects-leaving no stone unturned[J].Am J Med Genet A,2017,173(11):3042-3057.
[19] 王红, 张向阳. 甲硫氨酸合酶基因多态性和心血管疾病[J].中国康复, 2010,25(4):297-300.
[20] 郑梅玲,毕星宇. 神经管畸形与MTHFRC677T、MTHFRA1298C、MSA2756G基因多态性的相关性研究[J].中国优生与遗传杂志,2005,13(11):26-28.
[21] Ouyang S, Li Y, Liu Z, et al. Association between MTR A2756G and MTRR A66G polymorphisms and maternal risk for neural tube defects:a meta-analysis[J].Gene, 2013,515(2):308-312.
[22] 张瑞苹, 方玉莲, Lakhey N, 等. 甲硫氨酸合酶还原酶基因A66G多态性与神经管缺陷关系的Meta分析[J].临床小儿外科杂志, 2017,16(4):347-354.
[23] 常歌, 牛勃. 叶酸及DNA甲基化与神经管畸形关系的研究进展[J].国际生殖健康/计划生育杂志, 2017,36(5):426-429.
[24] 仇小强. 先天性心脏病和神经管畸形分子流行病学研究[D].武汉:华中科技大学, 2008.
[25] Salih MA. Neural tube defects. Challenging, yet preventable[J].Saudi Med J, 2014,35(12):3-4.
[26] Desrosiers TA, Siega-riz AM, Mosley BS, et al. Low carbohydrate diets may increase risk of neural tube defects[J].Birth Defects Res,2018,110(11):901-909.
[27] Yamaguchi Y, Miura M. How to form and close the brain:insight into the mechanism of cranial neural tube closure in mammals[J].Cell Mol Life Sci, 2013,70(17):3171-3186.
[28] Miyazawa H, Yamaguchi Y, Sugiura Y, et al. Rewiring of embryonic glucose metabolism via suppression of PFK-1 and aldolase during mouse chorioallantoic branching[J].Development, 2017,144(1):63-73.
[29] 柴智, 袁怀永,解军, 等. 神经管畸形发病机制的研究进展[J].世界中西医结合杂志, 2013,8(9):968-972.
[30] Finnell RH, Mohl VK, Bennett GD, et al. Failure of epoxide formation to influence carbamazepine‐induced teratogenesis in a mouse model[J].Teratog Carcinog Mutagen, 2010,6(5):393-401.
[31] 李勇,王维林, 袁正伟, 等. 脊柱裂动物模型制作与胚胎发生机制探讨[J].中华小儿外科杂志, 2004,25(5):438-443.
[32] Testud F, D′amico A, Lambert-chhum R, et al. Pregnancy outcome after risk assessment of occupational exposure to organic solvents:a prospective cohort study[J].Reprod Toxicol, 2010,30(3):409-413.
[33] Wigle DT, Arbuckle TE, Turner MC, et al. Epidemiologic evidence of relationships between reproductive and child health outcomes and environmental chemical contaminants[J].J Toxicol Environ Health B Crit Rev, 2008,11(5-6):373-517..
[34] Yang W, Carmichael SL, Roberts EM, et al. Residential agricultural pesticide exposures and risk of neural tube defects and orofacial clefts among offspring in the san joaquin valley of California[J].Am J Epidemiol, 2014,179(6):740-748.
[35] Moretti ME, Bar-oz B, Fried S, et al. Maternal hyperthermia and the risk for neural tube defects in offspring:systematic review and meta-analysis[J].Epidemiology, 2005,16(2):216-219.
[36] 徐兴欣. 高温致神经管畸形中p38MAPK及Bax/Bcl-2、Caspase-3的表达变化[D].济南:山东大学,2011.
[37] 柴智, 袁怀永, 王永辉, 等. 神经管畸形发病机制的研究进展[J].世界中西医结合杂志, 2013,8(9):968-972.
[38] Huang J, Wu J, Li T, et al. Effect of exposure to trace elements in the soil on the prevalence of neural tube defects in a high-risk area of china[J].Biomed Environ Sci, 2011,24(2):94-101.
[39] Zhao Z, Cao L, Reece EA. Formation of neurodegenerative aggresome and death-inducing signaling complex in maternal diabetes-induced neural tube defects[J].Proc Natl Acad Sci USA, 2017,114(17):4489-4494.
[40] Meng X, Sun Y, Duan W, et al. Meta-analysis of the association of maternal smoking and passive smoking during pregnancy with neural tube defects[J].Int J Gynaecol Obstet,2017,114(17):4489-4494