Genetic conditioned changes in activity of 5,10-methylenetetrahydrofolate reductase (MTHFR) and recurrent miscarriages;Genetycznie uwarunkowane zmiany w aktywności reduktazy 5,10-metýlenotetra- hydrofolianowej (MTHFR) a występowanie poronień nawracających

Ginekologia Polska

Volumn 80, Issue 10, 2009, Pages 762-767

  Grazyna, Kurzawińska ^a   Agnieszka, Seremak Mrozikiewicz ^a   Krzysztof, Drews ^a   Magdalena, Barlik ^b   Przemysław, M Mrozikiewicz ^c  

^a Klinika Perinatologii i Chorób Kobiecych Uniwersytet Medyczny w Poznaniu   (Poland)

^b POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^c GP Pharm Medical Pozna   (Poland)

Author keywords

5,10 Methylenetetrahydrofolate reductase MTHFR); Genetic polymorphism; Hyperhomocysteinemia; Recurrent miscarriages

Indexed keywords

5,10-METHYLENETETRAHYDROFOLATE; FOLIC ACID; METHYLENETETRAHYDROFOLIC ACID; TETRAHYDROFOLIC ACID DERIVATIVE;

FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN; HYPERHOMOCYSTEINEMIA; METABOLISM; PREGNANCY; RECURRENT ABORTION; REVIEW; RISK FACTOR;

ABORTION, HABITUAL; FEMALE; FOLIC ACID; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERHOMOCYSTEINEMIA; POLYMORPHISM, GENETIC; PREGNANCY; RISK FACTORS; TETRAHYDROFOLATES;

EID: 74049148889     PISSN: 00170011     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (44)

1. Bre{ogonek}borowicz G.H, Sobieszczyk S. Koagulopatie położnicze. W: Położnictwo i ginekologia. Red. Bre{ogonek}borowicz G.H. Warszawa: PZWL, 2005, 151-161.
2. Wouters M, Boers G, Blom H, [et al.]. Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril. 1993, 60, 820-825.
3. Brenner B, Sarig G, Weiner Z, [et al.]. Thrombophilic polymorphisms are common in women with fetal loss without apparent cause. Thromb Haemost. 1999, 82, 6-9.
4. Nelen W, Steegers E, Eskes T, [et al.]. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet. 1997, 350, 861.
5. Seremak-Mrozikiewicz A, Drews K, Sobieszczyk S. Zasady poste{ogonek}powania oraz stosowanie profilaktyki przeciwzakrzepowej u cie{ogonek}żarnych z powikłaniami położniczymi oraz trombofilia{ogonek} wrodzona{ogonek}. Ginekol Pol. 2007, 78, 971-976.
6. Kang S, Zhou J, Wong P, [et al.]. Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988, 43, 414-421.
7. Gellekink H, den Heijer M, Heil S, [et al.]. Genetic determinants of plasma total homocysteine. Semin Vasc Med. 2005, 5, 98-109.
8. Vilaseca M, Moyano D, Ferrer I, [et al.]. Total homocysteine in pediatric patients. Clin Chem. 1997, 43, 690-692.
9. Goyette P, Sumner J, Milos R, [et al.]. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet. 1994, 7, 195-200.
10. Homberger A, Linnebank M, Winter C, [et al.]. Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. Eur J Hum Genet. 2000;8:725-729.
11. Guenther B, Sheppard C, Tran P, [et al.]. The structure and properties of methylenetetrahydro- folate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia. Nat Struct Biol. 1999, 6, 359-365.
12. Frosst P, Blom H, Milos R, [et al.]. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995, 10, 111-113.
13. Van der Put N, Gabreëls F, Stevens E, Smeitink J, [et al.]. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet. 1998, 62, 1044-1051.
14. Matthews R, Vanoni M, Hainfeld J, [et al.]. Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis. J Biol Chem. 1984, 259, 11647-11650.
15. Brockton N. Localized depletion: the key to colorectal cancer risk mediated by MTHFR genotype and folate? Cancer Causes Control. 2006, 17, 1005-1016.
16. Chango A, Boisson F, Barbé F, [et al.]. The effect of 677C-->T and 1298A-->C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects. Br J Nutr. 2000, 83, 593-596.
17. Ren A, Wang J. Methylenetetrahydrofolate reductase C677T polymorphism and the risk of unexplained recurrent pregnancy loss: a meta-analysis. Fertil Steril. 2006, 86, 1716-1722.
18. Mtiraoui N, Zammiti W, Ghazouani L, [et al.]. Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses. Reproduction. 2006, 131, 395-401.
19. Steegers-Theunissen R, Wathen N, Eskes T, [et al.]. Materna and fetal levels of methionine and homocysteine in early human pregnancy. Br J Obst Gynaecol. 1997, 104, 20-24.
20. Nelen W, Blom H, Steegers E, [et al.]. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril. 2000, 74, 1196-1199.
21. Hohlagschwandtner M, Unfried G, Heinze G, [et al.]. Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage. Fertil Steril. 2003, 79, 1141-1148.
22. Holmes Z, Regan L, Chilcott I, [et al.]. The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss. Br J Haematol. 1999, 105, 98-101.
23. Quere I, Bellet H, Hoffet M, [et al.]. A woman with five consecutive fetal deaths: case report and retrospective analysis of hyperhomocysteinemia prevalence in 100 consecutive women with recurrent miscarriages. Fertil Steril. 1998, 69, 152-154.
24. Grandone E, Margaglione M, Colaizzo D, [et al.]. Methylene tetrahydrofolate reductase [MTHFR] 677T-->C mutation and unexplained early pregnancy loss. Thromb Haemost. 1998, 79, 1056- 1057.
25. Kutteh W, Park V, Deitcher S. Hypercoagulable state mutation analysis in white patients with early first-trimester recurrent pregnancy loss. Fertil Steril. 1999, 71, 1048-1053.
26. Lissak A, Sharon A, Fruchter O, [et al.]. Polymorphism for mutation of cytosine to thymine at location 677 in the methylenetetrahydrofolate reductase gene is associated with recurrent early fetal loss. Am J Obstet Gynecol. 1999, 181, 126-130.
27. Weisberg I, Tran P, Christensen B, [et al.]. A second genetic polymorphism in methylenetetra- hydrofolate reductase [MTHFR] associated with decreased enzyme activity. Mol Genet Metab. 1998, 64, 169-172.
28. Weisberg I, Jacques P, Selhub J, [et al.]. The 1298A-->C polymorphism in methylenetetrahydro- folate reductase [MTHFR]: in vitro expression and association with homocysteine. Atherosclerosis. 2001, 156, 409-415.
29. Chango A, Boisson F, Barbé F, [et al.]. The effect of 677C-->T and 1298A-->C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects. Br J Nutr. 2000, 83, 593-596.
30. Hanson N, Aras O, Yang F, [et al.]. C677T and A1298C polymorphisms of the methylenetetra- hydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. Clin Chem. 2001, 47, 661-666.
31. Friso S, Girelli D, Trabetti E, [et al.]. A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism. Clin Exp Med. 2002, 2, 7-12.
32. Friedman G, Goldschmidt N, Friedlander Y, [et al.]. A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations. J Nutr. 1999, 129, 1656-1661.
33. Le Marchand L, Donlon T, Hankin J, [et al.]. B-vitamin intake, metabolic genes, and colorectal cancer risk [United States]. Cancer Causes Control. 2002, 13, 239-248.
34. Isotalo P, Wells G, Donnelly J. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet. 2000, 67, 986-990.
35. Zetterberg H, Regland B, Palmér M, [et al.]. Increased frequency of combined methylenetetra- hydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur J Hum Genet. 2002, 10, 113-118.
36. Goodman C, Coulam C, Jeyendran R, [et al.]. Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss? Am J Reprod Immunol. 2006, 56, 230-236.
37. Subrt I, Ulcova-Gallova Z, Bibkova K, [et al.]. Recurrent pregnancy loss and frequency of eight antiphospholipid antibodies and genetic thrombophilic factors in Czech women. Am J Reprod Immunol. 2008, 59, 193-200.
38. Melo S, Persuhn D, Meirelles M, [et al.]. G1793A polymorphisms in the methylene-tetrahydrofolate gene: effect of folic acid on homocysteine levels. Mol Nutr Food Res. 2006, 50, 769-774.
39. Winkelmayer W, Huber A, Wagner O, [et al.]. Associations between MTHFR 1793G>A and plasma total homocysteine, folate, and vitamin B in kidney transplant recipients. Kidney Int. 2005, 67, 1980-1985.
40. Altmae S, Stavreus-Evers A, Ruiz J, [et al.]. Variations in folate pathway genes are associated with unexplained female infertility. Fertil Steril. 2009, Epub ahead of print.
41. Kurzawińska G. Polimorfizm genów warunkuja{ogonek}cych trombofilie{ogonek} wrodzona{ogonek} w grupie kobiet z poronieniami w I trymestrze cia{ogonek}ży. Rozprawa doktorska. Poznań: Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, 2009.
42. Steegers-Theunissen R, Boers G, Trijbels F, [et al.]. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism. 1994, 43, 1475-1480.
43. Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom [Kyoto]. 2006, 46, 55-67.
44. Kordas K, Ettinger A, Lamadrid-Figueroa H, [et al.]. Methylenetetrahydrofolate reductase [MTHFR] C677T, A1298C and G1793A genotypes, and the relationship between maternal folate intake, tibia lead and infant size birth. Br J Nutrition. 2009, 2, 1-8.