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Coordinación General de Investigación de la Facultad de Salud Pública y Nutrición y la Dirección General de Sistemas e Informática de la Universidad Autónoma de Nuevo León

2001, Número 4

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Rev Salud Publica Nutr 2001; 2 (4)


Evaluación clínica, bioquímica y molecular de una familia con recurrencia de defectos del tubo neural

Martínez VRT, Rojas MA, Sánchez HJG, Hernández TU, Delgado EI, Ortíz LR

Idioma: Español
Referencias bibliográficas: 41
Paginas:
Archivo PDF: 275.75 Kb.


RESUMEN

Se presenta una familia originaria del sur de Nuevo León con recurrencia de defectos del tubo neural (DTN) cuyos productos sobrevivientes se han logrado después del tratamiento pre-concepcional con folato. Después de las evaluaciones clínicas, bioquímicas y moleculares, se encuentra que los miembros presentan heterocigocidad para la mutación MTHFR 677T y que la madre y la hija son heterocigotas compuestas 677C/677T–1298A/1298C. Los niveles de folatos intraeritrocitarios y plasmáticos son normales y sólo el padre presenta niveles levemente incrementados de homocisteinemia. Estos resultados sugieren una interacción entre factores genéticos y nutricionales previamente implicados en la patogénesis de los DTN que podrían estar asociados adicionalmente a la recurrencia de este cuadro malformativo.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Lemire RJ. Neural tube defects. JAMA1988;259:558-562.

  2. International Centre for Birth Defects, EUROCAT 1998 . World Atlas of Birth Defects. Geneva: World Health Organization; pp. 20-31.

  3. Martínez de Villarreal LE, C Ayala-Alvarado y C Limón-Benavides 1999. Defectos congénitos y mortalidad infantil en el estado de Nuevo León. Medicina Universitaria; 1:113-117.

  4. Villarreal-Pérez JZ, JF González-Guerreo, JI Wong-Rios y LE Martínez de Villarreal 1999. Actualización y reporte sobre los defectos congénitos en el Estado de Nuevo León. Secretaría Estatal de Salud de Nuevo León. Monterrey, México

  5. Wang Y, Y Wu, G Zhou, C Xu and K Xiao 1996. An estimate of recurrence risk for neural tube defects in China. Hua Hsi I Ko Ta Hsueh Hsueh Pao, 27:196-198.

  6. Carter CO and JAF Roberts 1967. The risk of recurrence after two children with central-nervous-system malformations. Lancet; 1:306-308.

  7. van der Put NM, RP Steegers-Theunissen, P Frosst, FJ Trijbels, TK Eskes, LP van den Heuvel, EC Mariman, M den Heyer, R Rozen and HJ Blom.1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bífida. Lancet; 346: 1070-1071.

  8. MRC Vitamin study research group. 1991. Prevention of neural-tube defects results of the Medical Reserach Council Vitamin Study. Lancet; 338:131-137.

  9. Czeizel AE and I Dudas 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med; 327:1832-1835.

  10. Kang SS, PW Wong, A Susmano, J Sora, M Norusis and N Ruggie.1991. Thermolabile methylentetrahydrofolate reductase. An inherited risk factor for coronary artery disease. Am J Hum Genet; 48: 536-545.

  11. Engbersen AM, DG Franken, GH Boers, EM Stevens, FJ Trijbels and HJ Blom.1995. Thermolabile 5,10-mehylentetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet; 56:142-150.

  12. Rosenquist TH, SA Ratashak and J Selhub.1996. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci U S A; 93:15227-15232.

  13. Vanaerts LA, HJ Blom, RA Deabreu, FJ Trijbels and TK Eskes.1994. Copius Peereboom-Stegeman JH, Noordhoek J. Prevention of neural tube defects by and toxicity of L-homocysteine in cultured postimplantation rat embryos. Teratology; 50:348-360.

  14. Mutchinick OM, MA Lopez, L Luna, J Waxman and VE Babinsky.1999. High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. Mol Genet Metabol; 68:461-467.

  15. van der Put NM, F Gabreels, EM Stevens, JA Smeitink, FJ Trijbels, TK Eskes, LP van den Heuvel and HJ Blom.1998. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet; 62:1044-1051.

  16. Thompson MW, RR Mclnnes y HF Willard. 1996.Thompson & Thompson Genética en Medicina. 4a ed. Barcelona: Masson, SA. p. 337-350.

  17. Wald NJ and A Kennard 1996. Prenatal screening for neural tube defects and Down syndrome. In: Emery and Rimoin’s Principles and Practice of Medical Genetics. [DL Rimoin, JM Connor and RE Pyeritz] Third edition. New York: Churchill-Livingstone; pp. 545-562.

  18. Shaffer LG, ML Marzita, J Bodurtha, A Newlin and WE Nance.1990. Evidence for a major gene in familial anencephaly. Am J Hum Genet; 36:97-101.

  19. International Centre for Birth Defects, Op.cit

  20. Mutchinick OM et. al., Op.cit

  21. van der Put NM, RP Steegers-Theunissen et. al., Op.cit.

  22. Ou CY, RE Stevenson, VK Brown, CE Schwartz, WP Allen, MJ Khoury, R Rozen. GP Oakley Jr and MJ AdamsJr.1996. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet; 63:610-614.

  23. Whitehead AS, P Gallagher, JL Mills, PN Kirke, H Burke, AM Molloy, DG Weir, DC Shields, JM Scott. 1995. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. QJM; 88:763-766.

  24. Shields DC, PN Kirke, JL Mills, D Ramsbottom, AM Molloy, H Burke, DG Weir, JM Scott and AS Whitehead.1999. The "thermolabile" variant of methylentetrahydrofolate reductase and neural defect: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet; 64:1045-1055.

  25. Christensen B, L Arbour, P Tran, D Leclerc, N Sabbaghian, R Platt, BM Gilfix, DS Rosenblatt, RA Gravel, P Forbes and R Rozen 1999. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet; 84:151-157.

  26. Papapetrou C, SA Lynch, J Burn and YH Edwards 1996. Methylenetetrahydrofolate reductase and neural tube defects. Lancet; 348:58.

  27. Wilcken DE and XL Wang 1996. Relevance to spina bifida of mutated methylenetetrahydrofolate reductase. Lancet; 347:340.

  28. Mornet E, F Muller, A Lenvoise-Furet, AL Delezoide, JY Col, B Simon-Bouy and JL Serre 1997 Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum Genet; 100:512-514.

  29. Speer MC, G Worley, JF Mackey, E Melvin, WJ Oakes and TM George.1997. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasicans. Neurogenetics; 1:149-150.

  30. de Franchis R, A Buoninconti, C Mandato, A Pepe, MP Sperandeo, R Del Gado, V Capra, E Salvaggio, G Andria and P Mastroiacovo.1998. The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. J Med Genet; 35:1009-1013.

  31. Shaw GM, R Rozen, RH Finnell, CR Wasserman and EJ Lammer.1998. Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol; 148:30-31.

  32. Koch MC, K Stegmann, A Ziegler, B Schroter and A. Ermert 1998. Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population. Eur J Pediatr; 157:487-492.

  33. Ubbink JB, A Christianson, MJ Bester, MI Van Allen, PA Venter, R Delport, HJ Blom HJ, A van der Merwe, H Potgieter and WJ Vermaak 1999. Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects. Metabolism; 48:269-274.

  34. Boduroglu K, M Alikasifoglu, B Anar and E Tuncbilek 1999. Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. J Child Neurol; 14:159-161.

  35. van der Put NM, F Gabreels, et. al. Op. cit.

  36. Idem.

  37. Locksmith GJ and P Duff 1998. Preventing neural tube defects: The importance of the periconcepcional folic acid supplement. Obstet Gynecol; 91:1027-1034.

  38. van der Put NM, F Gabreels, et. al. Op. cit.

  39. Frosst P, HJ Blom, R Milos, P Goyette, CA Sheppard, RG Matthews, GJ Boers, M den Heijer, LAKluijtmans, LP van den Heuvel and R Rozen.1995. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Gene ;10:111-113.

  40. Zhao Q, RR Behringer and B de Crombrugghe 1996. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. Nat Genet;13:275-283.

  41. Carter M, S Ulrich, Y Oofuji, DA Williams and ME Ross.1999. Crooked tail (Cd) models human folateresponsive neural tube defects. Hum Mol Genet; 8:2199-2204




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