Here, we report two cases of compound heterozygote and homozygote MTHFR gene mutations associated with genetical disorders during their pregnancies.
📌 3 Key Takeaways
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Objective & Hypothesis:5,10-methylenetetrahydrofolate reductase (MTHFR) is an important enzyme taking role in methioninehomocysteine and folate metabolisms.
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Key Findings & Data:This pathway has been associated with gene specific DNA hypoand hypermethylation which results in gene switching on or off.MTHFR C677T and A1298C gene polymorphisms are associated with folate metabolism disorders, thatresults in impaired DNA methylation and chromosomal abnormalities, gene deficiencies and structuralanomalies.
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Conclusion & Impact:Here, we report two cases of compound heterozygote and homozygote MTHFR gene mutations associated with genetical disorders during their pregnancies.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
5,10-methylenetetrahydrofolate reductase (MTHFR) is an important enzyme taking role in methioninehomocysteine and folate metabolisms. This pathway has been associated with gene specific DNA hypoand hypermethylation which results in gene switching on or off.MTHFR C677T and A1298C gene polymorphisms are associated with folate metabolism disorders, thatresults in impaired DNA methylation and chromosomal abnormalities, gene deficiencies and structuralanomalies. Here, we report two cases of compound heterozygote and homozygote MTHFR gene mutations associated with genetical disorders during their pregnancies.
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Cite This Article
AYDIN, E., CEYLAN, A. C., BEKSAÇ, M. S. (2016). The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 22 - Sayı: 2, 110–112. https://ajindex.com/articles/193466
Bailey LB, Gregory J. Polymorphisms of methylenete- trahydrofolate reductase and other enzymes: metabolic significance, risks, and impact on folate requirement. J Nutr.1999;129:919-22.
Balaghi M, Wagner C. DNA methylation in folate defi- ciency use of CpG methylase. Biochem Biophys Res Commun. 1993;193:1184-90.
Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ. Polymorphisms in Genes Involved in Folate Metabolism as Maternal Risk Factors for Down syndrome. Am J Hum Genet. 2000;67: 623-30
Turgal M, Yazicioglu A, Ozyuncu O, Beksac MS. Impaired DNA methylation leading to heterotrisomy. J Obstet Gynecol. 2013;33:904-5
Beksac MS, Balci S, Guvendag Guven ES, Guven S, Ozkutlu S. Complex conotruncal cardiac anomalies con- secutively in three siblings from a consanguineous family possibly associated with maternal hyperhomocysteinemia, Arch Gynecol Obstet 2007;276:547-9 Martínez-Quintana E, Rodríguez-González F, Garay- Sánchez P, Tugores A. Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome. Mol Syndromol 2014; 5:36-40.
Luca AC, Iordache C, Braha E. A case of Turner Syndrome associated with severe coarctation of the aorta. Rev Med Chir Soc Med Nat Iasi 2013;117:670-3.
Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, et al. Description, nomencla- ture, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003;73:663-70.
Arth A, Tinker S, Moore C, Canfield M, Agopian A, Reefhuis J. Supplement use and other characteristics among pregnant women with a previous pregnancy af- fected by a neural tube defect United States, 1997-2009. MMWR Morb Mortal Wkly Rep 2015;64(1):6-9