Neural Tube Defects – Current Opinion on Etiopathogenesis and Prevention Potencial of Folic Acid
Authors:
J. Behúnová; Ľ. Podracká
Authors‘ workplace:
I. Klinika detí a dorastu LF UPJŠ a DFN, Košice
prednostka prof. MUDr. Ľ. Podracká, CSc.
Published in:
Čes-slov Pediat 2008; 63 (1): 38-46.
Category:
Review
Overview
Neural tube defects belong to the most serious birth defects. Comparing to the past – thanks to the possibilities of modern neurosurgery – the number of surviving children significantly increases – although frequent morbidity and variable degree of permanent deficiency (sensomotoric, autonomous or mental) are present in majority of patients.
Authors discuss present knowledge about etiopathogenesis of these multifactorial birth defects (genetic factors – polymorfisms of genes regulating folat and homocystein metabolism, transcription factors and signalling proteins, as well as environmental factors) with the emphasis on existing possibilities of prevention – sufficient daily intake of folat in all women in childbearing age and elimination of risk moments.
Key words:
neural tube defects, etiopathogenesis, gene polymorphisms, MTHFR, folat, homocystein, prevention
Sources
1. Moore CA, Li S, Li Z, et al. Elevated rates of severe neural tube defects in a high-prevalence area in Northern China. Am. J. Med. Genet. 1997;73: 113–118.
2. Horn F. Spina bifida – kaudálne defekty neurálnej rúry. Prešov: Vyd. Michala Vaška, 2005. 96 s.
3. Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr. Probl. Pediatr. 2000;30(10): 313–332.
4. Behunová J. Polymorfizmy génu pre metyléntetrahydrofolát reduktázu (MTHFR) vo vzťahu k etiopatogenéze rázštepov nervovej trubice a iným patologickým stavom (písomná práca k dizertačnej skúške). Košice: 2004. 106 s.
5. Suarez L, Hendricks A, Cooper SP, et al. Neural tube defects among Mexican Americans living on the US-Mexico border: effects of folic acid and dietary folate. Am. J. Epidemiol. 2000;152: 1017–1023.
6. Van Der Put NMJ, Van Straaten HWM, Trijbels FJM, Blom HJ. Folate, homocysteine and neural tube defects: An Overview. Exp. Biol. Med. 2001;226(4): 243–270.
7. Lumsden A, Graham A. Neural patterning: A forward role for hedgehog. Curr. Biol. 1995;5(12): 1347–1350.
8. Muenke M, Beachy PA. Genetics of ventral forebrain development and holoprosencephaly. Curr. Opin. Genet. Dev. 2000;10(3): 262–269.
9. Smithells RW, Seller MJ, Harris R, et al. Further experience of vitamin supplementation for prevention of neural tube defects recurrences. Lancet 1983;7(May): 1027–1031.
10. MRC Vitamin Study Research Group – Wald N, Sneddon J, Densem J, et al. Prevention of neural tube defects: results of the medical research council vitamin study. Lancet 1991;338: 131–137.
11. Czeizel AE, Dudás I. Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation. N. Engl. J. Med. 1992;327: 1832–1835.
12. Berry RJ, Li Z, Erickson J, et al. Prevention of neural-tube defects with folic acid in China. N. Engl. J. Med. 1999;341(20): 1485–1490.
13. Mills JL, McPartlin JM, Kirke PN, et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 1995;345: 149–151.
14. Martinez de Villarreal LE, Delgado-Enciso I, et al. Folate levels and N(5), N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study. Arch. Med. Res. 2001;32(4): 277–282.
15. Grandone E, Corrao AM, Colaizzo D, et al. Homocysteine metabolism in families from southern Italy with neural tube defects: role of genetic and nutritional determinants. Prenat. Diagn. 2006;26(1): 1–5.
16. Crott JW, Mashiyama ST, Ames BN, et al. The effect of folic acid deficiency and MTHFR C677T polymorphism on chromosome damage in human lymphocytes in vitro. Cancer Epidemiol. Biomarkers Prev. 2001;Oct.10: 1089–1096.
17. Blount BC, Mack MM, Wehr CM, et al. Folate deficiency causes uracil misincorporation into human DNA and chromosomal breakage: implications for cancer and neuronal damage. Proc. Natl. Acad. Sci. 1997;Apr.94: 3290–3295.
18. Kang SS, Wong PWK, Zhou J, et al. Thermolabile methylentetrahydrofolate reductase in patients with coronary artery disease. Metabolism 1988;37: 611–613.
19. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 1995;10: 111–113.
20. Rampersaud E, Melvin EC, Siegel D, NTD Collaborative Group, et al. Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. Clin. Genet. 2003;63(3): 210–214.
21. Richter B, Stegmann K, Roper B, et al. Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J. Hum. Genet. 2001;46(3): 105–109.
22. Johanning GL, Wenstrom KD, Tamura T. Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects. J. Med. Genet. 2002;39: 366–367.
23. Veselá K, Pavlíková M, Janošíková B, et al. Genetic determinants of folate status in Central Bohemia. Physiol. Res. 2005;54: 295–303.
24. Matalon R, Rady S, Szucs K, et al. Polymorphism of MTHFR and MTRR in Czech patients with cardiovascular diseases and stroke. Čes.-slov. Pediat. 2003;58(7): 418–420.
25. Rosenquist TH, Ratashak A, Selhub J. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc. Natl. Acad. Sci. USA 1996;93: 15227–15232.
26. Vanaerts LA. Investigation, using rat embryo culture, of the role of methionine supply in folic acid-mediated prevention of neural tube defects. Toxicology in Vitro 1995;9(5): 677–684.
27. Sadler TW, Bulman M, Wang P. Folic acid ameliorates toxicant induced growth retardation and birth defects: including fumonisin and hyperthermia. Faseb. J. 2000;16(4): A354.
28. Mills JL, Druschel CM, Pangilinan F, et al. Folate-related genes and omphalocele. Am. J. Med. Genet. A. 2005;136(1):8–11.
29. Botto LD, Khoury MJ, Mulinare J, et al. Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics 1996;98(5): 911–917.
30. Rosenblatt DS. Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome. Am. J. Clin. Nutr. 1999;70: 429–430.
31. Kadir R, Economides D. Neural tube defects and periconceptional folic acid. CMAJ 2002;167(3): 255–256.
32. Dolk H, McElhatton P. Assessing epidemiological evidence for the teratogenic effects of anticonvulsant medications. J. Med. Genet. 2002;39: 243–245.
33. Hernandez-Díaz S, Werler MM, Walker AM, et al. Folic acid antagonists during pregnancy and the risk of birth defects. N. Engl. J. Med. 2000;343: 1608–1614.
34. Milunsky A, Ulcickas M, Rothman KJ, et al. Maternal heat exposure and neural tube defects. JAMA 1992;268: 882–885.
35. Shaw GM, Velie EM, Schaffer D. Risk of neural tube defect-affected pregnancies among obese women. JAMA 1996;275(14): 1093–1096.
36. Bound JP, Harvey PW, Francis BJ, et al. Involvement of deprivation and environmental lead in neural tube defects: a matched case-control study. Arch. Dis. Child. 1997;76: 107–112.
37. Akar N. Neural tube defects and zinc. Arch. Dis. Child. 1998;78: 288.
38. Behunová J, Podracká Ľ. Kyselina listová ako ju (možno) nepoznáme. Ambulantná Terapia 2006;3(1): 3–4.
39. Behunová J, Podracká Ľ. Rázštepy nervovej trubice – preventabilné vrodené chyby? Lekársky Obzor 2005;54(3): 110–113.
40. McNulty H, Cuskelly GJ, Ward M. Response of blood cell folate to intervention: implications for folate recommendations for the prevention of neural tube defects. Am. J. Clin. Nutr. 2000;71(Suppl): 1308S–1311S.
41. Prinz-Langenohl R, Brőnstrup A, Thorand B, et al. Availability of food folate in humans. J. Nutr. 1999;129: 913–916.
42. Cuskelly G, McNulty H, Scott JM. Fortification with low amounts of folic acid makes a significant difference in folate status in young women: implications for the prevention of neural tube defects. Am. J. Clin. Nutr. 1999;70: 234–239.
43. Persad VL, Van den Hof MC, Dubé JM, et al. Incidence of open neural tube defects in Nova Scotia after folic acid fortification. CMAJ 2002;167(3): 241–245.
44. Elliott V. Folic acid in bread to cut birth defects. The Times 2006;April 5: 1–3.
45. Giovanucci EL, Stampfer MJ, Colditz GA, et al. Multivitamin use, folate, and colon cancer in women in the nurses’ health study. Ann. Intern. Med. 1998;129: 517–524.
46. Zhang S, Hunter DJ, Hankinson SE, et al. A prospective study of folate intake and the risk of breast cancer. JAMA 1999;281(17): 1632–1637.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2008 Issue 1
Most read in this issue
- Aspirated Foreign Bodies in Children
- Early Diagnostics of Asperger Syndrome and Specific Aspects
- Neural Tube Defects – Current Opinion on Etiopathogenesis and Prevention Potencial of Folic Acid
- Transcutaneous Bilirubinometry in Preterm Newborns