scholarly journals Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity

Nutrients ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 2600 ◽  
Author(s):  
Vlad Serafim ◽  
Adela Chirita-Emandi ◽  
Nicoleta Andreescu ◽  
Diana-Andreea Tiugan ◽  
Paul Tutac ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Red Blood Cells ◽  
Blood Cells ◽  
Methylenetetrahydrofolate Reductase ◽  
Genetic Variations ◽  
Nucleotide Polymorphisms ◽  
Dietary Intakes ◽  
Omega 3 ◽  
Single Nucleotide ◽  
Pufa Composition

Polyunsaturated fatty acids (PUFAs) play important roles in health and disease. PUFA levels are influenced by nutrition and genetic factors. The relationship between PUFA composition in red blood cells (RBCs) and genetic variations involved in PUFA metabolism has not been investigated in children with obesity. This study evaluated the association between several genetic variations and PUFA levels in RBCs in children with obesity. One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine N-methyltransferase (PEMT) rs1109859 and methylenetetrahydrofolate reductase gene (MTHFR) rs4846052 genotypes were associated with PUFA levels in RBCs. PUFA intake did not influence the RBC eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) levels. Higher RBC DHA and EPA levels were observed for PEMT rs1109859 GG and GA genotypes versus the AA genotype. Higher levels of RBC DHA, EPA, arachidonic acid (ARA), and linoleic acid (LA) and were observed for MTHFR rs4846052 TT genotype versus TC and CC genotypes. Genetic variations in PEMT rs1109859 and MTHFR rs4846052 were associated with different PUFA levels in RBC membranes and are estimators for PUFA species in RBCs. Further research is needed to establish whether these genotype-specific alterations are specific to overweight children.

5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate

2014 ◽  
Vol 122 (2) ◽  
pp. 109-113 ◽  
Author(s):  
Bernardette Estandia-Ortega ◽  
José A. Velázquez-Aragón ◽  
Miguel A. Alcántara-Ortigoza ◽  
Miriam E. Reyna-Fabian ◽  
Sandra Villagómez-Martínez ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Interaction Analysis ◽  
Environment Interaction ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Cleft Lip Palate

Functional nonsynonymous single nucleotide polymorphisms from the TGF-β protein interaction network

2007 ◽  
Vol 29 (2) ◽  
pp. 109-117 ◽  
Author(s):  
Sevtap Savas ◽  
Ian W. Taylor ◽  
Jeff L. Wrana ◽  
Hilmi Ozcelik
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Protein Interactions ◽  
Transforming Growth Factor ◽  
Conservation Status ◽  
Genetic Variations ◽  
Phosphorylation Sites ◽  
Nucleotide Polymorphisms ◽  
Protein Protein Interactions ◽  
Single Nucleotide ◽  
Putative Protein

Protein complexes mediated by protein-protein interactions are essential for many cellular functions. Transforming growth factor (TGF)-β signaling involves a cascade of protein-protein interactions and malfunctioning of this pathway has been implicated in human diseases. Using an in silico approach, we analyzed the naturally occurring human genetic variations from the proteins involved in the TGF-β signaling (10 TGF-β proteins and 242 other proteins interacting with them) to identify the ones that have potential biological consequences. All proteins were searched in the dbSNP database for the presence of nonsynonymous single nucleotide polymorphisms (nsSNPs). A total of 118 validated nsSNPs from 63 proteins were retrieved and analyzed in terms of 1) evolutionary conservation status, 2) being located in a functional protein domain or motif, and 3) altering putative protein motif or phosphorylation sites. Our results indicated the presence of 31 nsSNPs that occurred at evolutionarily conserved residues, 37 nsSNPs were located in protein domains, motifs, or repeats, and 46 nsSNPs were predicted to either create or abolish putative protein motifs or phosphorylation sites. We undertook this study to analyze the human genetic variations that can affect the protein function and the TGF-β signaling. The nsSNPs reported in here can be characterized by experimental approaches to elucidate their exact biological roles and whether they are related to human disease.

scholarly journals Methylenetetrahydrofolate Reductase Haplotype Tag Single-Nucleotide Polymorphisms and Risk of Breast Cancer

2006 ◽  
Vol 15 (11) ◽  
pp. 2322-2324 ◽  
Author(s):  
Y. N. Martin ◽  
J. E. Olson ◽  
J. N. Ingle ◽  
R. A. Vierkant ◽  
Z. S. Fredericksen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals MTHFR (methylenetetrahydrofolate reductase: EC 1.5.1.20) SNPs (single-nucleotide polymorphisms) and homocysteine in patients referred for investigation of fertility

2021 ◽  
Author(s):  
Yves Ménézo ◽  
Pasquale Patrizio ◽  
Silvia Alvarez ◽  
Edouard Amar ◽  
Michel Brack ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Compound Heterozygous ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Men And Women ◽  
Male Gametes ◽  
Folate Cycle ◽  
The Impact

Abstract Purpose MTHFR, one of the major enzymes in the folate cycle, is known to acquire single-nucleotide polymorphisms that significantly reduce its activity, resulting in an increase in circulating homocysteine. Methylation processes are of crucial importance in gametogenesis, involved in the regulation of imprinting and epigenetic tags on DNA and histones. We have retrospectively assessed the prevalence of MTHFR SNPs in a population consulting for infertility according to gender and studied the impact of the mutations on circulating homocysteine levels. Methods More than 2900 patients having suffered at least two miscarriages (2 to 9) or two failed IVF/ICSI (2 to 10) attempts were included for analysis of MTHFR SNPs C677T and A1298C. Serum homocysteine levels were measured simultaneously. Results We observed no difference in the prevalence of different genetic backgrounds between men and women; only 15% of the patients were found to be wild type. More than 40% of the patients are either homozygous for one SNP or compound heterozygous carriers. As expected, the C677T SNP shows the greatest adverse effect on homocysteine accumulation. The impact of MTHFR SNPs on circulating homocysteine is different in men than in women. Conclusions Determination of MTHFR SNPs in both men and women must be seriously advocated in the presence of long-standing infertility; male gametes, from MTHFR SNPs carriers, are not exempted from exerting a hazardous impact on fertility. Patients should be informed of the pleiotropic medical implications of these SNPs for their own health, as well as for the health of future children.

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