Article
Biochemistry & Molecular Biology
Malgorzata Wrzosek, Klaudia Slusarczyk
Summary: This study examined the influence of the MTHFR C677T variant on BMI and its role as a risk factor for obesity. The results showed that the MTHFR 677TT genotype is not directly related to a higher BMI in Polish adults but has a detrimental effect on folate concentrations in individuals with high BMI values.
Article
Genetics & Heredity
Olivera Miljanovic, Sladana Teofilov, Miljana Andelic, Zvonko Magic, Bojana Cikota-Aleksic
Summary: This study investigates the association between maternal MTHFR gene polymorphisms and risk of offspring aneuploidy. The results suggest that the MTHFR 677TT genotype and T allele are more prevalent among women with aneuploidy, especially sex chromosome aneuploidies and trisomy 13/18, and among younger women. However, no association is observed between the 1298A>C polymorphism and aneuploidy risk.
PRENATAL DIAGNOSIS
(2022)
Article
Medicine, General & Internal
Hua Huang, Jiangyan He, Dongyang Deng, Rong Chen, Yiyuan Zhou
Summary: This retrospective study aims to identify the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T, A1298C), methionine synthase reductase (MTRR) (A66G) and explore their correlation with folate metabolism risk in pregnant women. The study analyzed the demographic data of 8735 pregnant women and tested their blood samples. The results showed that certain genotypes of MTHFR C677T and MTRR A66G were significantly related to the risk levels of folate metabolism.
Article
Neurosciences
Anca Elena Gogu, Dragos Catalin Jianu, Victor Dumitrascu, Horia Ples, Alina Zorina Stroe, Daniel Docu Axelerad, Any Docu Axelerad
Summary: CVST is a severe neurological emergency with variable clinical presentation, onset, risk factors, and outcome. Genetic polymorphisms of the MTHFR gene are associated with CVST, along with other factors such as local infections, general infections, obstetric causes, and head injury. The study found a significant correlation between MTHFR polymorphisms and higher cholesterol levels, low-density lipoprotein cholesterol, and homocysteine levels. High-sensitive C-reactive protein levels and hyperhomocysteinemia were also identified as potential prognostic factors in CVST.
Article
Oncology
Jiahui Shen, Yanhui Jiang, Fengzhi Wu, Hui Chen, Qiujing Wu, Xiaoxiao Zang, Le Chen, Yong Chen, Qiwen Yuan
Summary: This study found that MTHFR C677T polymorphism was associated with UF occurrence for the first time, implying that it may increase the risk of forming UF in women of gestational age. Factors such as BMI, gravidity, and parity were not associated with UF size and number, as well as the MTHFR C677T polymorphism, while older maternal age was associated with UF incidence, especially multiple UF.
FRONTIERS IN ONCOLOGY
(2021)
Article
Pharmacology & Pharmacy
Ahlam Abuawad, Anne K. Bozack, Roheeni Saxena, Mary Gamble
Summary: The one-carbon metabolism-related micronutrients play a critical role in arsenic methylation, toxicity, and associated health outcomes. Folate has been shown to impact arsenic methylation, but the effects of other micronutrients are less studied and require further research.
Article
Biochemistry & Molecular Biology
Yuwei Wang, Lili Huo, Changqing Yang, Xiaofeng He
Summary: Gastric cancer is a common malignancy of the digestive system. In this study, inconsistent results were found when evaluating the association between MTHFR gene polymorphisms and gastric cancer risk. However, further analysis showed that MTHFR C677T polymorphism was significantly associated with gastric cancer risk, especially in Asians, while MTHFR A1298C polymorphism was not associated with gastric cancer risk.
BIOSCIENCE REPORTS
(2023)
Article
Multidisciplinary Sciences
Cameron B. Haas, Yu-Ru Su, Paneen Petersen, Xiaoliang Wang, Stephanie A. Bien, Yi Lin, Demetrius Albanes, Stephanie J. Weinstein, Mark A. Jenkins, Jane C. Figueiredo, Polly A. Newcomb, Graham Casey, Loic Le Marchand, Peter T. Campbell, Victor Moreno, John D. Potter, Lori C. Sakoda, Martha L. Slattery, Andrew T. Chan, Li Li, Graham G. Giles, Roger L. Milne, Stephen B. Gruber, Gad Rennert, Michael O. Woods, Steven J. Gallinger, Sonja Berndt, Richard B. Hayes, Wen-Yi Huang, Alicja Wolk, Emily White, Hongmei Nan, Rami Nassir, Noralane M. Lindor, Juan P. Lewinger, Andre E. Kim, David Conti, W. James Gauderman, Daniel D. Buchanan, Ulrike Peters, Li Hsu
Summary: Observational studies have shown that higher folate consumption is associated with a lower risk of colorectal cancer. This study investigated the interaction between genetic risk factors and folate consumption on colorectal cancer risk. The results suggest that certain genes involved in preventing or repairing DNA damage may interact with folate consumption to alter the risk of colorectal cancer.
SCIENTIFIC REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
Song Leng, Ai Zhao, Jian Zhang, Wei Wu, Qian Wang, Shan Wu, Li Chen, Qiang Zeng
Summary: The study revealed the interactive effects between MTHFR C677T gene polymorphism and dietary patterns on the risk of Hhcy among the Chinese population. Both the snack and high-meat dietary patterns were associated with increased risk of Hhcy, especially in individuals carrying the MTHFR 677TT genotype.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Mengting Sun, Tingting Wang, Peng Huang, Jingyi Diao, Senmao Zhang, Jinqi Li, Liu Luo, Yihuan Li, Letao Chen, Yiping Liu, Jianhui Wei, Xinli Song, Xiaoqi Sheng, Jiabi Qin
Summary: Our study revealed genetic polymorphisms of maternal MTHFR gene were significantly associated with the risk of fetal CHD in the Chinese population, with significant interactions among different SNPs. Further research in different ethnic populations with larger sample sizes is needed to confirm these findings and understand how these SNPs impact fetal heart development.
BMC CARDIOVASCULAR DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Dengyu Ji, Chenghua Luo, Jing Liu, Yan Cao, Jiangxu Wu, Wenjing Yan, Ke Xue, Jiayin Chai, Xinyu Zhu, Ye Wu, Huirong Liu, Wen Wang
Summary: The study identified that hydrogen sulfide (H2S) could enhance the bioactivity of MTHFR through S-sulfhydration, offering a potential therapeutic strategy for hyperhomocysteinemia (HHcy).
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Endocrinology & Metabolism
Stephanie Dias, Sumaiya Adam, Paul Rheeder, Carmen Pheiffer
Summary: This study investigated the association between ADIPOQ and MTHFR gene polymorphisms and GDM in a population of black South African women, finding no significant association between these genetic variations and GDM. The results suggest that these specific SNPs do not individually increase the risk of GDM in the African population.
DIABETES METABOLIC SYNDROME AND OBESITY-TARGETS AND THERAPY
(2021)
Article
Biochemistry & Molecular Biology
Xue Wu, Kai Liu, Xinke Zhao, Xiaowei Zhang, Huan Guo, Hugang Jiang, Juan Chang, Xinfang Lv, Xiang Gao, Xiaodong Zhi, Chunzhen Ren, Qilin Chen, Yufang Liang, Yingdong Li
Summary: This study evaluated the relationship between polymorphisms in the MTHFR gene and CHD in the Gansu region of China. The findings suggest that the TT genotype of the MTHFR C677T locus is closely associated with an increased risk of CHD.
DNA AND CELL BIOLOGY
(2022)
Article
Genetics & Heredity
Jochen Weile, Nishka Kishore, Song Sun, Ranim Maaieh, Marta Verby, Roujia Li, Iosifina Fotiadou, Julia Kitaygorodsky, Yingzhou Wu, Alexander Holenstein, Celine Buerer, Linnea Blomgren, Shan Yang, Robert Nussbaum, Rima Rozen, David Watkins, Marinella Gebbia, Viktor Kozich, Michael Garton, D. Sean Froese, Frederick P. Roth
Summary: Most rare clinical missense variants, including the MTHFR variant impact, cannot be easily classified, as variant effects in MTHFR deficiency depend on environmental factors. The MTHFR atlas scores can differentiate pathogenic from benign variants and correlate with disease onset age in severe MTHFR deficiency. The atlas provides insights on structure-function relationships and the impact of genetic background on missense variations.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Medicine, Research & Experimental
Hany M. M. Abdel Allah, Walid E. Zahran, Samir A. El-Masry, Mahmoud El-Bendary, Ahmed F. Soliman
Summary: The study found that MTHFR c.677C>T and c.1298A>C gene polymorphisms may influence the susceptibility to HCV-related HCC in the Egyptian population, aiding in the early diagnosis and management of the disease.
CLINICAL AND EXPERIMENTAL MEDICINE
(2022)
Review
Oncology
Vanessa Nicoli, Fabio Coppede
Summary: Thymic epithelial tumors (TETs) arise from the epithelial cells of the thymus and account for 1% of all adult malignancies, despite being the most common lesions of the anterior mediastinum. TETs can be classified into different subtypes, including thymomas, thymic carcinomas, and neuroendocrine forms. The challenge lies in the diagnosis and characterization of TETs due to the lack of symptoms and the presence of paraneoplastic disorders. Epigenetic profiling has been explored as a potential tool for tumor characterization and clinical outcomes prediction.
Article
Oncology
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D'Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Summary: Different scoring systems have been developed over time for the clinical diagnosis of Beckwith-Wiedemann spectrum (BWSp), with the international consensus score being the most recent. A study was conducted to validate and provide data on the performance metrics of these scoring systems, and their relation to BWSp features, molecular tests, and cancer development probability. The consensus scoring system showed the best performance, while the diagnostic yield of blood-extracted DNA tests was low in patients with a low consensus score. The score did not correlate with cancer development, but certain risks were identified for specific BWSp features.
Editorial Material
Oncology
Fabio Coppede
Review
Biochemistry & Molecular Biology
Andrea Stoccoro, Eugenia Conti, Elena Scaffei, Sara Calderoni, Fabio Coppede, Lucia Migliore, Roberta Battini
Summary: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with unknown causes. Epigenetic mechanisms, specifically DNA methylation, may play a role in ASD pathogenesis. This systematic review aimed to investigate the clinical application of DNA methylation in children with ASD, with potential as a biomarker. The results suggest that peripheral DNA methylation could be a promising methodology in ASD research, but further studies are needed to develop clinical applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Urology & Nephrology
Roberto Silvestri, Vanessa Nicoli, Priyadarsini Gangadharannambiar, Francesco Crea, Martin D. Bootman
Summary: This article provides an overview of the role of calcium in driving prostate cancer and discusses current therapies targeting calcium signalling to treat this malignancy.
NATURE REVIEWS UROLOGY
(2023)
Article
Genetics & Heredity
Andrea Stoccoro, Vanessa Nicoli, Fabio Coppede, Enzo Grossi, Giorgio Fedrizzi, Simonetta Menotta, Francesca Lorenzoni, Marta Caretto, Arianna Carmignani, Sabina Pistolesi, Ernesto Burgio, Vassilios Fanos, Lucia Migliore
Summary: Exposure to environmental stressors during pregnancy can influence susceptibility to chronic diseases through epigenetic mechanisms. This study used artificial neural networks (ANNs) to explore the links between gestational environmental exposures and DNA methylation in placental and buccal cells. The results showed associations between birth weight and placental H19 methylation, maternal stress during pregnancy and methylation levels of NR3C1 and BDNF in placenta and buccal cells respectively, and air pollutant exposure and maternal MGMT methylation. Associations were also found between placental metal concentrations and methylation levels of OXTR, HSD11B2, MECP2, and MTHFR in different cells. Dioxin concentrations were associated with methylation levels of RELN, HSD11B2, and H19 in placenta and neonatal buccal cells. These findings suggest that environmental stressors during pregnancy can lead to abnormal methylation levels in genes related to embryogenesis and may serve as biomarkers of environmental exposure.
Article
Genetics & Heredity
Carla Lintas, Ilaria Cassano, Alessia Azzara, Maria Grazia Stigliano, Chiara Gregorj, Roberto Sacco, Andrea Stoccoro, Fabio Coppede, Fiorella Gurrieri
Summary: Neurodevelopmental Disorders (NDs) are a group of heterogeneous diseases with both genetic and environmental factors. Epigenetic dysregulation driven by adverse environmental factors has been found in neurodevelopmental disorders, potentially contributing to their onset. This study focused on analyzing the methylation profile of four well-known neurodevelopment-related genes in mothers of AS, ADHD, and typically developing children, and found significant methylation increases in certain genes in AS mothers compared to ADHD and healthy control mothers. This dysregulation in AS mothers could potentially affect their children's condition and merits further investigation.
Article
Neurosciences
Elena Scaffei, Raffaele Mazziotti, Eugenia Conti, Valeria Costanzo, Sara Calderoni, Andrea Stoccoro, Claudia Carmassi, Raffaella Tancredi, Laura Baroncelli, Roberta Battini
Summary: Autism spectrum disorder (ASD) is a challenging neurodevelopmental condition to detect in young females due to the heterogeneity of the behavioral phenotype and the capacity of camouflage. Functional Near-infrared Spectroscopy (fNIRS) is a non-invasive tool that can quantify cortical hemodynamic responses (HDR) and potentially serve as a biomarker for ASD in females. A case-control study on high-functioning preschooler females with ASD demonstrated the feasibility of using visual fNIRS measurements to discriminate between ASD and typical subjects based on signal features such as vHDR amplitude and lateralization. The level of response lateralization was also found to be correlated with the severity of autistic traits, highlighting the importance of sensory symptoms in ASD.
Review
Biotechnology & Applied Microbiology
Carla Talita Azevedo Ginani, Jefferson Romaryo Duarte da Luz, Kleyton Santos de Medeiros, Ayane Cristine Alves Sarmento, Fabio Coppede, Maria das Gracas Almeida
Summary: This systematic review and meta-analysis found that the MTHFR C677T polymorphism is associated with maternal risk for Down syndrome (DS), while the A1298C polymorphism is not. The association is more significant in the Asian population and is not observed in Europeans. Further studies are needed to explain these differences.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Fabio Coppede, Utsa Bhaduri, Andrea Stoccoro, Vanessa Nicoli, Eleonora Di Venere, Giuseppe Merla
Summary: The central objective of combining discovery science with biomedical applications is to benefit patients and reduce the global disease burden. The conversion of DNA methylation (DNAm) from a biological process to a diagnostic tool is a prime example of this transformation, which took nearly a century. In recent years, DNAm studies have been standardized in clinical applications more than ever before, offering great potential for diagnosing various diseases associated with epigenetic alterations. DNAm detection plays a role in noninvasive prenatal testing and indicates prenatal risk factors in very preterm infants. In the field of cancer, liquid biopsy-based DNAm profiling provides valuable epigenetic biomarkers for early-stage diagnosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
