Isolated methylenetetrahydrofolate reductase (MTHFR) gene mutations and pregnancy outcome

2006 ◽  
Vol 195 (6) ◽  
pp. S96
Author(s):  
Hye Heo ◽  
Kay O'meara ◽  
Kafui Demasio
Keyword(s):  
Pregnancy Outcome ◽  
Methylenetetrahydrofolate Reductase ◽  
Gene Mutations ◽  
Mthfr Gene

scholarly journals Methylenetetrahydrofolate Reductase C677T and A1298C Mutations in Women with Recurrent Spontaneous Abortions in the Northwest of Iran

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Ahmad Poursadegh Zonouzi ◽  
Nader Chaparzadeh ◽  
Mehrdad Asghari Estiar ◽  
Mahzad Mehrzad Sadaghiani ◽  
Laya Farzadi ◽  
...  
Keyword(s):  
Restriction Fragment Length Polymorphism ◽  
Methylenetetrahydrofolate Reductase ◽  
Fragment Length Polymorphism ◽  
Gene Mutations ◽  
Mthfr Gene ◽  
Amplification Refractory Mutation System ◽  
Healthy Controls ◽  
Significant Difference ◽  
Mutation System ◽  
Restriction Fragment Length

Introduction. Recurrent spontaneous abortion (RSA) is a significant obstetrical complication that may occur during pregnancy. Various studies in recent years have indicated that two common mutations (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene are risk factor for RSA. This study was carried out to determine the influence of (C677T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene mutations with RSA. Materials and Methods. A total of 139 women were included in this study: 89 women with two or more consecutive miscarriages and 50 healthy controls. Total genomic DNA was isolated from blood leukocytes. To determine the frequency of the two common C677T and A1298C MTHFR gene mutations in the patients and controls, we used two methods, amplification refractory mutation system-PCR and PCR-restriction fragment length polymorphism. Results. There is no significant difference in the prevalence of 677T/T genotype among women with RSA and healthy controls (). Also no statistically significant difference in the frequency of A1298C MTHFR gene mutation was detected between the two groups ( ). Conclusion. In conclusion, the results indicate that the Amplification Refractory Mutation System-PCR method was in complete concordance with the results obtained by standard PCR-restriction fragment length polymorphism method. The results also show no significant difference in MTHFR C677T/A1298C genotype distribution among the two groups; therefore, further studies on larger population and other genetic variants to better understand the pathobiology of RSA are needed.

scholarly journals Effect of Methylenetetrahydrofolate Reductase (MTHFR) gene mutations and oxidative stress in silent brain infarction

2021 ◽  
Author(s):  
Pınar Aslan Koşar ◽  
Muhammet Yusuf Tepebaşı ◽  
Nihat Şengeze ◽  
İlter İlhan ◽  
Halil İbrahim Büyükbayram ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Brain Infarction ◽  
Gene Mutations ◽  
White Matter Lesions ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Total Thiol ◽  
Significant Difference ◽  
Silent Brain Infarction ◽  
Fazekas Scale

Abstract Ischemic infarctions occur under the influence of genetic and environmental factors. In our study, the role of ischemia-modified albumin and thiol balance, which are new markers in determining oxidative damage together with MTHFR gene mutations and homocysteine levels, in the development of SBI was investigated. White matter lesions in the magnetic resonance imaging (MRI) results of the patients were evaluated according to the Fazekas scale and divided into groups (Grade 0, 1, 2, and 3). Homocysteine, folate, B12, IMA, total thiol, and native thiol were measured by biochemical methods. The mutations in MTHFR genes were investigated by the RT-PCR method. According to our results, a significant difference was found between the groups in age, homocysteine, folate, IMA, total thiol, and native thiol parameters (p<0.05). When we compared the groups in terms of genotypes of the C677T gene, we found a significant difference in TT genotype between grades 0/3 and 1/3 (p<0.05). We determined that homocysteine and IMA levels increased and folate levels decreased in CC/TT and CT/TT genotypes in the C677T gene (p<0.05). Considering our results, the observation of homocysteine and IMA changes at the genotype level of the MTHFR C677T gene and between the groups, and the deterioration of thiol balance between the groups suggested that these markers can be used in the diagnosis of silent brain infarction.

scholarly journals Epigenetic Factors in Late-Onset Alzheimer’s Disease: MTHFR and CTH Gene Polymorphisms, Metabolic Trans-sulfuration and Methylation Pathways, and B Vitamins

2018 ◽  
Author(s):  
Gustavo C. Román ◽  
Oscar Mancera-Páez ◽  
Camilo Bernal
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Late Onset ◽  
Memory Loss ◽  
Gene Mutations ◽  
Mthfr Gene ◽  
B Vitamins ◽  
Common Mutation ◽  
Epigenetic Factors ◽  
Vitamin B9 ◽  
Total Homocysteine

DNA methylation and other epigenetic factors are important in the pathogenesis of late-onset Alzheimer&rsquo;s disease (LOAD).&nbsp; Methylenetetrahydrofolate reductase (MTHFR) gene mutations occur in most elderly patients with memory loss.&nbsp; MTHFR is critical for production of S-adenosyl-L-methionine (SAM), the principal methyl donor.&nbsp; A common mutation (1364T/T) of the cystathionine-&gamma;-lyase (CTH) gene affects the enzyme that converts cystathionine to cysteine in the trans-sulfuration pathway causing plasma elevation of total homocysteine (tHcy) or hyperhomocysteinemia &ndash; a strong and independent risk factor for cognitive loss and AD. Other causes of hyperhomocysteinemia include aging, nutritional factors, and deficiencies of B vitamins. We emphasize the importance of supplementing vitamin B12 (methylcobalamin), vitamin B9 (folic acid), vitamin B6 (pyridoxine), and SAM to patients in early stages of LOAD.

scholarly journals Methylenetetrahydrofolate Reductase (MTHFR) Gene Mutations in Patients with Idiopathic Scoliosis: A Clinical Chart Review

2017 ◽  
Vol 07 (01) ◽  
pp. 62-67 ◽  
Author(s):  
Mark W. Morningstar ◽  
Megan N. Strauchman ◽  
Clayton J. Stitzel ◽  
Brian Dovorany ◽  
Aatif Siddiqui
Keyword(s):  
Idiopathic Scoliosis ◽  
Chart Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Gene Mutations ◽  
Mthfr Gene ◽  
Clinical Chart

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

2021 ◽  
pp. 112067212110006
Author(s):  
Manuel Marques ◽  
Francisco Alves ◽  
Miguel Leitão ◽  
Catarina Rodrigues ◽  
Joana Tavares Ferreira
Keyword(s):  
Risk Factors ◽  
Literature Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Vein Occlusion ◽  
C677t Mutation ◽  
Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

scholarly journals COVID‐19 spreading across world correlates with C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene prevalence

2021 ◽  
Author(s):  
Giovanni Ponti ◽  
Lorenza Pastorino ◽  
Marco Manfredini ◽  
Tomris Ozben ◽  
Gabriella Oliva ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene

Correlation between Methylenetetrahydrofolate Reductase Polymorphisms and Hepatocellular Carcinoma: A Meta-Analysis

2019 ◽  
Vol 74 (3) ◽  
pp. 251-256 ◽  
Author(s):  
Hailong Su ◽  
Guo Zhang
Keyword(s):  
Hepatocellular Carcinoma ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
Random Effect ◽  
Recessive Model ◽  
Mthfr Gene ◽  
Systematic Research ◽  
The Relationship ◽  
Random Effect Models

Background: The correlation between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and hepatocellular carcinoma (HCC) remains controversial. Objectives: We performed this study to better assess the relationship between MTHFR gene polymorphisms and the likelihood of HCC. Methods: A systematic research of PubMed, Medline, and Embase was performed to retrieve relevant articles. ORs and 95% CIs were calculated. Results: A total of 15 studies with 8,378 participants were analyzed. In overall analyses, a significant association with the likelihood of HCC was detected for the rs1801131 polymorphism with fixed-effect models (FEMs) in recessive comparison (p = 0.002, OR 0.62, 95% CI 0.43–0.82). However, no positive results were detected for the rs1801133 polymorphism in any comparison. Further subgroup analyses revealed that the rs1801131 polymorphism was significantly associated with the likelihood of HCC in Asians with both FEMs (recessive model: p < 0.0001, OR 0.42, 95% CI 0.29–0.62; allele model: p = 0.004, OR 1.20, 95% CI 1.06–1.35) and random-effect models (recessive model: p = 0.002, OR 0.47, 95% CI 0.29–0.75). Nevertheless, we failed to detect any significant correlation between the rs1801133 polymorphism and HCC. Conclusions: Our findings indicated that the rs1801131 polymorphism may serve as a genetic biomarker of HCC in Asians.

Sign in / Sign up

Export Citation Format

Share Document