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Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD). CASE REPORT: A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
Jun Yan, Hai-Juan Liu, Wei-Chun Guo, Jian Yang
OBJECTIVE: Irisin derived from muscle in response to exercise may be the molecular entity responsible for muscle wasting-osteoporosis connectivity in the elderly. The objective of the study was to determine whether serum Irisin (sIrisin) provides information on hip fracture prediction which were independent of bone mineral density (BMD) and the fracture risk assessment tool (FRAX) algorithm. METHODS: This study enrolled 160 older women (ages, 70-90 y) with minimal trauma hip fractures (MTHFs) and 160 age-matched women without fracture serving as controls...
April 10, 2017: Joint, Bone, Spine: Revue du Rhumatisme
Wendy N Nembhard, Xinyu Tang, Zhuopei Hu, Stewart MacLeod, Zachary Stowe, Daniel Webber
Objective To evaluate whether the association between maternal periconceptional use of selective serotonin reuptake inhibitors (SSRIs) and increased risk of congenital heart defects in offspring is modified by maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways.Design Population based study. DNA from mothers, fathers, and infants was genotyped with an Illumina GoldenGate custom single nucleotide polymorphism panel. A hybrid design based on a log linear model was used to calculate relative risks and Bayesian false discovery probabilities (BFDP) to identify polymorphisms associated with congenital heart defects modified by SSRI use...
March 6, 2017: BMJ: British Medical Journal
Ming Li, Mario A Cleves, Himel Mallick, Stephen W Erickson, Xinyu Tang, Todd G Nick, Stewart L Macleod, Charlotte A Hobbs
The development of congenital heart defects (CHDs) involves a complex interplay between genetic variants, epigenetic variants, and environmental exposures. Previous studies have suggested that susceptibility to CHDs is associated with maternal genotypes, fetal genotypes, and maternal-fetal genotype (MFG) interactions. We conducted a haplotype-based genetic association study of obstructive heart defects (OHDs), aiming to detect the genetic effects of 877 SNPs involved in the homocysteine, folate, and transsulfuration pathways...
September 2014: Human Genetics
Salman M Tajuddin, André F S Amaral, Agustín F Fernández, Sandra Rodríguez-Rodero, Ramón María Rodríguez, Lee E Moore, Adonina Tardón, Alfredo Carrato, Montserrat García-Closas, Debra T Silverman, Brian P Jackson, Reina García-Closas, Ashley L Cook, Kenneth P Cantor, Stephen Chanock, Manolis Kogevinas, Nathaniel Rothman, Francisco X Real, Mario F Fraga, Núria Malats
BACKGROUND: Altered DNA methylation has been associated with various diseases. OBJECTIVE: We evaluated the association between levels of methylation in leukocyte DNA at long interspersed nuclear element 1 (LINE-1) and genetic and non-genetic characteristics of 892 control participants from the Spanish Bladder Cancer/EPICURO study. METHODS: We determined LINE-1 methylation levels by pyrosequencing. Individual data included demographics, smoking status, nutrient intake, toenail concentrations of 12 trace elements, xenobiotic metabolism gene variants, and 515 polymorphisms among 24 genes in the one-carbon metabolism pathway...
June 2013: Environmental Health Perspectives
Shimul Chowdhury, Charlotte A Hobbs, Stewart L MacLeod, Mario A Cleves, Stepan Melnyk, S Jill James, Ping Hu, Stephen W Erickson
BACKGROUND: The development of non-syndromic congenital heart defects (CHDs) involves a complex interplay of genetics, metabolism, and lifestyle. Previous studies have implicated maternal single nucleotide polymorphisms (SNPs) and altered metabolism in folate-related pathways as CHD risk factors. OBJECTIVE: We sought to discover associations between maternal SNPs and metabolites involved in the homocysteine, folate, and transsulfuration pathways, and determine if these associations differ between CHD cases and controls...
November 2012: Molecular Genetics and Metabolism
Meagan Tolley, Lydia Bickford, Kristen Clare, Timothy W Johann
5-Formyltetrahydrofolate is a compound that is administered as a rescue agent in methotrexate chemotherapy and in 5-fluorouracil chemotherapy for synergistic effects. It has also recently been suggested to play a role in bacterial resistance to antifolate therapy. 5,10-methenyltetrahydrofolate synthetase (MTHFS) is the only enzyme known to catalyze the conversion of this compound to 5,10-methenyltetrahydrofolate along with the hydrolysis of ATP to ADP. To better understand the roles of specific amino acids in the ATP binding pocket of this enzyme, we used site-directed mutagenesis to create 10 modified forms of the Mycoplasma pneumoniae ortholog...
August 2012: Protein Journal
Martha S Field, Donald D Anderson, Patrick J Stover
Tetrahydrofolates (THF) are a family of cofactors that function as one-carbon donors in folate-dependent one-carbon metabolism, a metabolic network required for the de novo synthesis of purines, thymidylate, and for the remethylation of homocysteine to methionine in the cytoplasm. 5-FormylTHF is not a cofactor in one-carbon metabolism, but serves as a storage form of THF cofactors. 5-formylTHF is mobilized back into the THF cofactor pool by methenyltetrahydrofolate synthetase (MTHFS), which catalyzes the irreversible and ATP-dependent conversion 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate...
2011: Frontiers in Genetics
Chin-Jung Lin, Min-Jie Wen, Yi-Jen Hung, Dee Pei, Shi-Wen Kuo, Chang-Hsun Hsieh
Genome-wide association studies provide information implicating 5,10-methenyltetrahydrofolate synthetase (MTHFS) as a candidate gene for renal disease. In the Atherosclerosis Risk in Communities study, the intronic single-nucleotide polymorphism rs6495446 in the gene MTHFS confirmed the association between this gene and renal disease among Caucasian participants. We replicated this genetic association in a Taiwanese population with diabetic nephropathy (DN). A total of 358 Taiwanese patients with type 2 diabetes (T2D) were recruited...
February 2012: Genetic Testing and Molecular Biomarkers
Sam Ogwang, Hoa T Nguyen, Marissa Sherman, Saralee Bajaksouzian, Michael R Jacobs, W Henry Boom, Guo-Fang Zhang, Liem Nguyen
Antifolates, which are among the first antimicrobial agents invented, inhibit cell growth by creating an intracellular state of folate deficiency. Clinical resistance to antifolates has been mainly attributed to mutations that alter structure or expression of enzymes involved in de novo folate synthesis. We identified a Mycobacterium smegmatis mutant, named FUEL (which stands for folate utilization enzyme for leucovorin), that is hypersusceptible to antifolates. Chemical complementation indicated that FUEL is unable to metabolize folinic acid (also known as leucovorin or 5-formyltetrahydrofolate), whose metabolic function remains unknown...
April 29, 2011: Journal of Biological Chemistry
Susan H Blanton, Robin R Henry, Quiping Yuan, John B Mulliken, Samuel Stal, Richard H Finnell, Jacqueline T Hecht
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common complex birth defect. Periconceptional supplementation with folic acid, a key component in DNA synthesis and cell division, has reduced the birth prevalence of neural tube defects and may similarly reduce the birth prevalence of other complex birth defects including NSCLP. Past studies investigating the role of two common methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs), C677T (rs1801133) and A1298C (rs1801131), in NSCLP have produced conflicting results...
January 2011: Birth Defects Research. Part A, Clinical and Molecular Teratology
Linda E Kelemen, Marc T Goodman, Valerie McGuire, Mary Anne Rossing, Penelope M Webb, Martin Köbel, Hoda Anton-Culver, Jonathan Beesley, Andrew Berchuck, Sony Brar, Michael E Carney, Jenny Chang-Claude, Georgia Chenevix-Trench, Daniel W Cramer, Julie M Cunningham, Richard A Dicioccio, Jennifer A Doherty, Douglas F Easton, Zachary S Fredericksen, Brooke L Fridley, Margaret A Gates, Simon A Gayther, Aleksandra Gentry-Maharaj, Estrid Høgdall, Susanne Krüger Kjaer, Galina Lurie, Usha Menon, Patricia G Moorman, Kirsten Moysich, Roberta B Ness, Rachel T Palmieri, Celeste L Pearce, Paul D P Pharoah, Susan J Ramus, Honglin Song, Daniel O Stram, Shelley S Tworoger, David Van Den Berg, Robert A Vierkant, Shan Wang-Gohrke, Alice S Whittemore, Lynne R Wilkens, Anna H Wu, Joellen M Schildkraut, Thomas A Sellers, Ellen L Goode
BACKGROUND: We previously reported the risks of ovarian carcinoma for common polymorphisms in one-carbon transfer genes. We sought to replicate associations for DPYD rs1801265, DNMT3A rs13420827, MTHFD1 rs1950902, MTHFS rs17284990, and TYMS rs495139 with risk of ovarian carcinoma overall and to use the large sample of assembled cases to investigate associations by histologic type. METHODS: Associations were evaluated in the Ovarian Cancer Association Consortium, including 16 studies of 5,593 epithelial ovarian carcinoma cases and 9,962 controls of white non-Hispanic origin...
July 2010: Cancer Epidemiology, Biomarkers & Prevention
Dong Wu, Yang Li, Gaojie Song, Chongyun Cheng, Rongguang Zhang, Andrzej Joachimiak, Neil Shaw, Zhi-Jie Liu
5,10-Methenyltetrahydrofolate synthetase (MTHFS) regulates the flow of carbon through the one-carbon metabolic network, which supplies essential components for the growth and proliferation of cells. Inhibition of MTHFS in human MCF-7 breast cancer cells has been shown to arrest the growth of cells. Absence of the three-dimensional structure of human MTHFS (hMTHFS) has hampered the rational design and optimization of drug candidates. Here, we report the structures of native hMTHFS, a binary complex of hMTHFS with ADP, hMTHFS bound with the N5-iminium phosphate reaction intermediate, and an enzyme-product complex of hMTHFS...
September 15, 2009: Cancer Research
Martha S Field, Montserrat C Anguera, Rodney Page, Patrick J Stover
Methenyltetrahydrofolate synthetase (MTHFS) expression enhances folate-dependent de novo purine biosynthesis. In this study, the effect of increased MTHFS expression on the efficacy of the glycinamide ribonucleotide formyltransferase (GARFT) inhibitor LY309887 was investigated in SH-SY5Y neuroblastoma. GARFT catalyzes the incorporation of formate, in the form of 10-formyltetrahydrofolate, into the C8 position of the purine ring during de novo purine biosynthesis. SH-SY5Y neuroblastoma with increased MTHFS expression displayed a 4-fold resistance to the GARFT inhibitor LY309887, but did not exhibit resistance to the thymidylate synthase inhibitor Pemetrexed...
January 15, 2009: Archives of Biochemistry and Biophysics
Anna Kottgen, Wen Hong L Kao, Shih-Jen Hwang, Eric Boerwinkle, Qiong Yang, Daniel Levy, Emelia J Benjamin, Martin G Larson, Brad C Astor, Josef Coresh, Caroline S Fox
BACKGROUND: The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants provides a list of SNPs showing the strongest associations with renal traits which need to be verified in independent study samples. METHODS: Sixteen SNPs were selected for replication based on the most promising associations with chronic kidney disease (CKD), estimated glomerular filtration rate (eGFR), and serum cystatin C in FHS...
June 3, 2008: BMC Medical Genetics
Amber N Hancock, R Shane Coleman, Richard T Johnson, Catherine A Sarisky, Timothy W Johann
5,10-Methenyltetrahydrofolate synthetase (MTHFS) catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate coupled to the hydrolysis of ATP. A co-crystal structure of MTHFS bound to its substrates has been published (Chen et al., Proteins 56:839-843, 2005) that provides insights into the mechanism of this reaction. To further investigate this mechanism, we have replaced the arginine at position 115 and the lysine at position 120 with alanine (R115A and K120A, respectively). Circular dichroism spectra for both mutants are consistent with folded proteins...
August 2008: Protein Journal
Kyoung-Mu Lee, Qing Lan, Anne Kricker, Mark P Purdue, Andrew E Grulich, Claire M Vajdic, Jennifer Turner, Denise Whitby, Daehee Kang, Stephen Chanock, Nathaniel Rothman, Bruce K Armstrong
Dysregulation of the one-carbon metabolic pathway, which controls nucleotide synthesis and DNA methylation, may promote lymphomagenesis. We evaluated the association between polymorphisms in one-carbon metabolism genes and risk of non-Hodgkin lymphoma (NHL) in a population-based case-control study in Australia. Cases (n = 561) and controls (n = 506) were genotyped for 14 selected single-nucleotide polymorphisms in 10 genes (CBS, FPGS, FTHFD, MTHFR, MTHFS, MTR, SHMT1, SLC19A1, TCN1, and TYMS). We also conducted a meta-analysis of all studies of Caucasian populations investigating the association between MTHFR Ex5+79C > T (a...
December 2007: Human Genetics
A Matakidou, R El Galta, M F Rudd, E L Webb, H Bridle, T Eisen, R S Houlston
Functional nonsynonymous single-nucleotide polymorphisms (nsSNPs) of folate metabolism genes can influence the methylation of tumour suppressor genes, thereby potentially impacting on tumour behaviour. To investigate whether such polymorphisms influence lung cancer survival, we genotyped 14 nsSNPs mapping to methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR); DNA methyltransferase (DNMT2), methylenetetrahydrofolate dehydrogenase (MTHFD1) and methenyltetrahydrofolate synthetase (MTHFS) in 619 Caucasian women with incident disease, 465 with non-small cell (NSCLC) and 154 with small cell lung cancer (SCLC)...
July 16, 2007: British Journal of Cancer
Martha S Field, Doletha M E Szebenyi, Cheryll A Perry, Patrick J Stover
The interaction of 5-formyltetrahydrofolate analogs with murine methenyltetrahydrofolate synthetase (MTHFS) was investigated using steady-state kinetics, molecular modeling, and site-directed mutagenesis. MTHFS catalyzes the irreversible cyclization of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate. Folate analogs that cannot undergo the rate-limiting step in catalysis were inhibitors of murine MTHFS. 5-Formyltetrahydrohomofolate was an effective inhibitor of murine MTHFS (K(i)=0.7 microM), whereas 5-formyl,10-methyltetrahydrofolate was a weak inhibitor (K(i)=10 microM)...
February 15, 2007: Archives of Biochemistry and Biophysics
Unhee Lim, Sophia S Wang, Patricia Hartge, Wendy Cozen, Linda E Kelemen, Stephen Chanock, Scott Davis, Aaron Blair, Maryjean Schenk, Nathaniel Rothman, Qing Lan
We previously reported a lower risk of non-Hodgkin lymphoma (NHL) associated with high consumption of vitamin B6 and methionine, dietary determinants of one-carbon metabolism. Evidence has linked genetic variants involved in one-carbon metabolism to NHL. We investigated 30 polymorphisms in 18 genes for their main effect on NHL among 1141 incident cases and 949 population-based controls and examined gene-nutrient interactions in a subgroup of 386 cases and 319 controls who provided detailed food-frequency information...
April 1, 2007: Blood
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