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
Biochemistry & Molecular Biology
Margarita Neganova, Alexey Semakov, Yulia Aleksandrova, Ekaterina Yandulova, Sergey Pukhov, Lada Anikina, Sergey Klochkov
Summary: The combination of anthracycline antibiotics with natural sesquiterpene lactones shows promising results in terms of cytotoxicity and glycolysis inhibition, while reducing damaging effects on rat heart mitochondria. This strategy may lead to the development of potential antitumor chemotherapeutic drugs with enhanced efficacy against tumor cells and reduced toxicity to healthy cells.
Article
Agriculture, Dairy & Animal Science
Ruwini Rupasinghe, Woutrina A. Smith, Danielle J. Harvey, Saumya Wickramasinghe, Eranda Rajapaksha
Summary: The study demonstrated that a toy embedded with roots of Acalypha indica has the potential as an environmental enrichment tool for adult domestic cats, while variations in olfactory receptor genes could alter their behavioral responses towards these olfactory enrichment toys.
APPLIED ANIMAL BEHAVIOUR SCIENCE
(2022)
Review
Pharmacology & Pharmacy
N. P. Syamprasad, Siddhi Jain, Bishal Rajdev, Neethu Prasad, Ravindra Kallipalli, V. G. M. Naidu
Summary: It is established that metabolic reprogramming plays a crucial role in the development and progression of various cancers, but a common biomarker linking dysregulated metabolism and cancer progression has yet to be identified. Recent studies suggest that aldose reductase (AR) is involved in cancer metabolism. AR-mediated glucose metabolism leads to a Warburg-like effect and an acidic tumor microenvironment, while AR overexpression is associated with mitochondrial impairment and accumulation of free fatty acids. AR-mediated reduction of lipid aldehydes and chemotherapeutics activates factors promoting proliferation and chemo-resistance. Understanding cancer metabolism and the role of AR could potentially lead to the use of AR inhibitors as metabolic modulating agents for cancer therapy.
BIOCHEMICAL PHARMACOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Tomasz Rechcinski, Jaroslaw D. Kasprzak
Summary: This review examines the impact of genetic variability in nsSNPs of the renin-angiotensin-aldosterone system on arterial hypertension and its complications, as well as on other diseases such as neoplasms and inflammatory conditions. The study found that nsSNPs not only affect cardiovascular diseases, but also have implications for diverse health conditions.
CARDIOLOGY JOURNAL
(2022)
Article
Biochemistry & Molecular Biology
Muhammad Mazhar Fareed, Kunal Dutta, Thomas Dandekar, Herman Tarabonda, Ekaterina Skorb, Sergey Shityakov
Summary: This study used advanced computational techniques to investigate the impact of SNPs in the BCL2 gene on the stability of Bcl-2 and the therapeutic potential of protein-based inhibitors. The results identified two deleterious and highly conserved nsSNPs that negatively affected protein stability. Additionally, molecular docking and dynamics simulations confirmed that these mutations decreased the binding affinity of Bcl-2 variants to a three-helix bundle protein inhibitor at the protein-protein binding site. Overall, this computational approach provides a useful basis for designing novel molecules to inhibit the Bcl-2 pro-survival pathway in malignant cells.
JOURNAL OF CELLULAR BIOCHEMISTRY
(2022)
Article
Environmental Sciences
Raquel Soler-Blasco, Florencia Harari, Gabriel Riutort-Mayol, Mario Murcia, Manuel Lozano, Amaia Irizar, Loreto Santa Marina, Miren Begona Zubero, Nora Fernandez-Jimenez, Simone Braeuer, Ferran Ballester, Sabrina Llop
Summary: This study investigated the role of genetic polymorphisms in AS3MT, GSTO2, N6AMT1, MTHFR, MTR, FTCD, CBS, and FOLH1 in inorganic arsenic (iAs) methylation efficiency during pregnancy. The results showed that ancestral alleles in AS3MT polymorphisms were associated with lower iAs methylation efficiency, and FOLH1 also played a role in iAs methylation efficiency.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Microbiology
Jihong Yi, Haiyan Huang, Jiyu Liang, Rufei Wang, Ziyong Liu, Fuli Li, Shuning Wang
Summary: The anaerobe Clostridium ljungdahlii can ferment CO or H-2/CO2 to produce acetate, ethanol, and 2,3-butanediol via the Wood-Ljungdahl pathway. The key enzyme methylenetetrahydrofolate reductase (MTHFR) was characterized as a non-electron-bifurcating heterodimer using reduced ferredoxin as its electron donor. These findings provide insight into the energy metabolism of syngas fermentation by C. ljungdahlii and may aid in the development of metabolic engineering strains and efficient fermentation technologies.
MICROBIOLOGY SPECTRUM
(2021)
Article
Nutrition & Dietetics
Xiaoting Lu, Rongzhu Huang, Shuyi Li, Aiping Fang, Yuming Chen, Si Chen, Fan Wang, Xinlei Lin, Zhaoyan Liu, Huilian Zhu
Summary: The study found that higher serum betaine levels, mutations in MTHFR G1793A and A1298C genes, as well as their combined effects, are associated with a lower risk of type 2 diabetes.
Article
Medicine, General & Internal
Shuai Zhao, Linlin Han, Ruihui Zhou, Shiqian Huang, Yafeng Wang, Feng Xu, Shaofang Shu, Leiming Xia, Xiangdong Chen
Summary: Sevoflurane-induced agitation is characterized by increases in the depth of anesthesia index, electromyography, heart rate, and mean arterial pressure, as well as a shift towards high frequencies with spikes in EEG. Genetic polymorphisms in the MTRR gene may be associated with susceptibility to agitation.
FRONTIERS IN MEDICINE
(2021)
Article
Pharmacology & Pharmacy
Shiori Takano, Tatsuki Fukami, Hiroyuki Ichida, Kohei Suzuki, Masataka Nakano, Miki Nakajima
Summary: The study investigated the effects of single-nucleotide polymorphisms (SNPs) in the AKR1C3 gene on the reductase activities of clinical drugs. The C145Y variant of AKR1C3 showed significantly lower reductase activities for acetohexamide, doxorubicin, and loxoprofen. Furthermore, individuals with the heterozygous genotype of the g.55101G>A SNP tended to exhibit lower reductase activities for these drugs compared to individuals with the homozygous wild-type genotype.
DRUG METABOLISM AND DISPOSITION
(2023)
Article
Oncology
Carmen Perez-Duran, Noelia Marquez-Pete, Jose Maria Galvez-Navas, Yasmin Cura, Susana Rojo-Tolosa, Laura Elena Pineda-Lancheros, Mcarmen Ramirez-Tortosa, Carlos Garcia-Collado, Maria del Mar Maldonado-Montoro, Jesus Maria Villar-del-Moral, Cristina Perez-Ramirez, Alberto Jimenez-Morales
Summary: Recent studies have suggested that vitamin D might influence the development and prognosis of colorectal cancer, and its activity might be influenced by single nucleotide polymorphisms in the genes involved in its metabolism. This study evaluated the influence of 13 SNPs in the vitamin D metabolic pathway on colorectal cancer survival. The results showed that variants in VDR, CYP24A1, and GC genes are associated with a lower survival rate.
Review
Obstetrics & Gynecology
Mohammad Jamshidi, Somayeh Mohammadi Pour, Mohammad Bahadoram, Mohammad-Reza Mahmoudian-Sani, Ali Saeedi Boroujeni
Summary: Among Iranian women, polycystic ovary syndrome is significantly associated with inflammation- and metabolism-related gene polymorphisms, but not with polymorphisms of insulin-related genes.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
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
Pharmacology & Pharmacy
Miao Li, Xiao-Yan Kong, Shu-Mei Wang
Summary: This study aimed to investigate the frequency distribution of five single-nucleotide polymorphisms (SNPs) of the MTRR gene in a Chinese pediatric population with acute lymphoblastic leukemia (ALL), and to examine their effects on methotrexate (MTX) concentration and the risk of relapse. Results showed ethnic differences in the distribution of these genetic variants in Chinese children with ALL. The rs1532268 polymorphism had a significant impact on MTX disposition. Certain genotypes were associated with a higher risk of ALL relapse.