The Effect of Maternal MTHFR C677T Gene Mutation Presence on Neonatal Birth Weight

Yıl 2014, Cilt: 5 Sayı: 19, 1 - 7, 03.03.2015

Dilek Şilfeler , Raziye Kurt Sezin Güney Bayram Dorum Erhan Yengil İbrahim Şilfeler

https://doi.org/10.17944/mkutfd.08329

Öz

Aim: MTHFR (methylenetetrahydrofolate
reductase) gene mutation may diminish
MTHFR activity and result in an increased
homocystein level. It is thought that MTHFR
gene mutation may cause intrauterine growth
restriction. The aim of this study is to evaluate
the effect of maternal MTHFR gene mutatıon
presence on neonatal birth weights.
Materials and Methods: The study
population consists of MTHFR gene mutation
group (n=71) and control group (n=36).
Neonatal birth weights were compared
between groups.
Results: 107 pregnant women applying to
Mustafa Kemal University Hospital were
included in this study. Neonatal birth weights
were lower in MTHFR gene mutatıon group
than in control group.
Conclusion: Our study result showed that
neonatal birth weights were lower in MTHFR
gene mutation group than in control group.
Neonatal care may be necessary for newborn
of mothers having MTHFR gene mutation.
Further studies are needed to investigate the
relation between MTHFR gene mutation and
neonatal birth weight.

Anahtar Kelimeler

methylenetetrahydrofolate reductase, neonatal birth weight, Gene Mutation

Maternal MTHFR C677T Gen Mutasyonu Varlığının Yenidoğan Doğum Ağırlığı Üzerine Etkisi

Öz

Amaç: MTHFR (metilentetrahidrofolat redüktaz) gen mutasyonu, MTHFR aktivitesinin azalmasına ve homosistein düzeyinde artışa neden olur. MTHFR gen mutasyonunun intrauterin büyümede yavaşlamaya neden olduğu düşünülmektedir. Bu çalışmada MTHFR gen mutasyonu olan gebelerden doğan yenidoğanların doğum kilolarını mutasyonu olmayan gebelerden doğan populasyonla karşılaştırmayı amaçladık.
Materyal-Metod: Çalışma grubu MTHRF gen mutasyonu (n=71) grubundan ve kontrol grubundan (n=36) oluşmaktaydı. Yenidoğan doğum ağırlıkları gruplar arasında karşılaştırıldı.
Bulgular: Kadın Hastalıkları ve Doğum polikliniğine incelenen dönemde başvuran ve MTHFR gen analizi bakılmış olan toplam 107 gebe değerlendirilmişti. Yenidoğan doğum ağırlıkları MTHRF gen mutasyonu grubunda, kontrol grubuna göre daha düşük bulunmuştur.
Sonuç: MTHFR mutasyonu olan kadınlardan doğan yenidoğanların doğum kilolarının normal populasyona göre daha düşük olduğu görülmüştür. Bu olguların yenidoğan yoğun bakım ünitesi olan bir merkezde doğum yapması uygun olacaktır. MTHFR mutasyonu ve yenidoğanların doğum kilolarının arasındaki ilişkiyi araştıran ileri çalışmalara ihtiyaç vardır.

Anahtar Kelimeler

Metilentetrahidrofolat redüktaz, yenidoğan doğum ağırlığı, gen mutasyonu

Kaynakça

• Rosenblatt DS. Methylenetetrahydrofolate reductase. Clin Invest Med. 2001;24:56-9.
• Homberger G, Linnebank M, Winter C, et al. Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. Eur J Hum Genet. 2000;8:725-9.
• Hague WM. Homocysteine and pregnancy. Best Pract Res Clin Obstet Gynaecol. 2003;17:459–69.
• Lee HA, Park EA, Cho SJ, Kim HS, Kim YJ, Lee H, Gwak HS, Kim KN, Chang7, Eun Ha NH, and Park H. Mendelian Randomization Analysis of the Effect of Maternal Homocysteine During Pregnancy, as Represented by Maternal MTHFR C677T Genotype, on Birth Weight. Gastrointestin Liver Dis. 2009;18:455-60. 5. Osian G, Procopciuc L, Vlad L, Iancu C, Mocan T, Mocan L. C677T and A1298C Mutations in the MTHFR Gene and Survival in Colorectal Cancer. J Gastrointestin Liver Dis. 2009;18:455-60.
• Kang SS, Wong PW, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet. 1991;48:536–45.
• Cortese C, Motti C. MTHFR gene polymorphism, homocysteine and cardiovascular disease. Public Health Nutr. 2001;4:493–7.
• Yila TA, Sasaki S, Miyashita C, Braimoh TS, Kashino I, Kobayashi S, Okada E, Baba T, Yoshioka E, Minakami H, Endo T, Sengoku K, and Kishi R. Effects of Maternal 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Tobacco Smokingon Infant Birth Weight in a Japanese Population. J Epidemiol 2012;22:91-102.
• Isotalo PA, Wells GA, Donnelly JG. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet. 2000;67:986–90.
• van der Molen EF, Arends GE, Nelen WL, van der Put NJ, Heil SG, Eskes TK, et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene as a new risk factor for placental vasculopathy. Am J Obstet Gynecol. 2000;182:1258–63.
• Hefler L, Jirecek S, Heim K, Grimm C, Antensteiner G, Zeillinger R, et al. Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study. J Soc Gynecol Investig. 2004;11:42–4.
• Johnson WG, Scholl TO, Spychala JR, Buyske S, Stenroos ES, Chen X. Common dihydrofolate reductase 19-base pair deletion allele: a novel risk factor for preterm delivery. Am J Clin Nutr. 2005;81:664–8.
• Relton CL, Pearce MS, Burn J, Parker L. An investigation of folate-related genetic factors in the determination of birthweight. Paediatr Perinat Epidemiol. 2005;19:360–7.
• Mtiraoui N, Zammiti W, Ghazouani L, Braham NJ, Saidi S, Finan RR, 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.
• Valdez LL, Quintero A, Garcia E, Olivares N, Celis A, Rivas F Jr, et al. Thrombophilic polymorphisms in preterm delivery. Blood Cells Mol Dis. 2004;33:51–6. 16. Stonek F, Hafner E, Philipp K, Hefler LA, Bentz EK, Tempfer CB. Methylenetetrahydrofolate reductase C677T polymorphism and pregnancy complications. Obstet Gynecol. 2007;110:363–8.
• Ozbek N, Ataç FB, Verdi H, Cetintaş S, Gürakan B, Haberal A. Relationship between small-for-gestational age births and maternal thrombophilic mutations. Thromb Res. 2008;122:175–8.
• Kordas K, Ettinger AS, Lamadrid-Figueroa H, Tellez- Rojo MM, Hérnandez-Avila M, Hu H, and Wright RO. Methylenetetrahydrofolate reductase (MTHFR) C677T, A1298Cand G1793A genotypes, and the relationship between maternalfolate intake, tibia lead and infant size at birth. Br J Nutr. 2009;102: 907–14.
• Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nature Genetics 1994;7:195-200.
• Brattstrom L, Wilcken DE, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease; the result of a metaanalysis. Circulation 1998;98:2520-6.
• Ueland P, Refsum H. Total homocystein in plasma or serum: methods and clinical applications. Clin Chem. 1993;39:1764-9.
• Leeda M, Riyazi N, De Varies JIP, Jacobs C, Van Geijn HP, Dekker GA. Effects of folic acid and vit B6 supplementation on women with hyperhomocysteinemia and a history of preeclampsia or fetal growth restriction. Am J Obstet Gynecol 1998;179:135-9.
• Alfirevic Z, Mousa HA, Martlew V, Bricoe L, Perez- Casal M, Toh CH. Postnatal screening for thrombophilia in women with severe pregnancy complications. Obstet Gynecol 2001;97:753-9.