Folate-pathway gene variants in Cancer

haematological malignancies

Publisher: Transworld Research Network in Trivandrum

Written in English
Published: Pages: 269 Downloads: 263
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About the Edition

Contirbuted chapters.

Edition Notes

Includes bibliographical references.

Statementeditor, Donato Gemmati.
ContributionsGemmati, Donato, 1963-, Transworld Research Network (Trivandrum, India)
The Physical Object
Pagination269 p. :
Number of Pages269
ID Numbers
Open LibraryOL23193855M
ISBN 109788178953397
LC Control Number2009341657

Nanodiagnostics and nanomedicine: Novel application in abnormal folate pathway malignancies. In D. Gemmati(Ed.), Folate-Pathway Gene Variants in Cancer: Haematological Malignancies (pp. ). Trivandrum: Transworld Research Network. ISBN:   Erbe RW () Genetic aspects of folate metabolism. Adv Hum Genet –, – PubMed Google Scholar Esfahani ST, Cogger EA, Caudill MA () Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in Cited by: Objective. To investigate the joint effects of the single nucleotide polymorphisms (SNPs) of genes in the folic acid pathway on homocysteine (Hcy) metabolism. Methods. Four hundred women with normal pregnancies were enrolled in this study. SNPs were identified by MassARRAY. Serum folic acid and Hcy concentration were by:   Narayanan S, McConnell J, Little J, Sharp L, Piyathilake C, Powers H, Basten G, Duthie S () Associations between two common variants CT and AC in the methylenetetrahydrofolate reductase gene and measures of folate metabolism and DNA stability (Strand Breaks, Misincorporated uracil, and DNA Methylation Status) in human lymphocytes in Cited by:

Peroxynitrite is a dangerous and damaging molecule that is created in NOS uncoupling. It will deplete glutathione, and weaken the immune system. NOS uncoupling involves the 'loss of function' of several genes in the Biopterin Pathway. The Biopterin pathway is connected to the Folate Pathway which is connected to the Methionine Pathway, and so on.   “Variants of the VDR gene have been associated with susceptibility to several autoimmune processes. The roles of the VDR gene polymorphisms depend on their locations (Slattery, ). FokI polymorphism is within the DNA binding domain, near the 5′ end, and the rest of the SNPs are in the 3′UTR region within the ligand binding domain. Down syndrome (DS) or trisomy 21 (MIM ) is the most common genetic disorder with a prevalence of 1 in live births (Jones, ).DS is the leading cause of genetically-defined intellectual disability (Contestabile et al., ) and its phenotype is complex and variable among individuals, who may present with a combination of dysmorphic features (Ahmed et al., ; Pavarino-Bertelli Cited by: 4. Folate pathway single nucleotide polymorphisms (SNPs) and neural tube defects: P. De Marco, A. Moroni, E. Merello, the CT mutation, in the methylenetetrahydrofolate reductase (MTHFR) gene, a key enzyme in the folic pathway, is the first identified genetic risk factor for NTDs. Analisi di single nucleotide polymorphisms (SNPs) del Author: P. De Marco, A. Moroni, E. Merello, L. Arata, M. G. Calevo, A. Cama, V. Capra.

And so everybody knows about the MTHFR gene defect, making methylfolate needs that MTHFR enzyme, and that MTHFR gene to work so it can go in and do its job. In summary, I would say that methylation is the process by which genes will produce an end-product which will then have a certain of functions and sometimes a singular function.   Hence, genetic variants can serve as indirect evidence for a causal link between exposure and disease. MR is a useful method for gaining new insights into the pathology of several diseases, such as cardiovascular disease, diabetes, and Parkinson’s disease [ 8–10 ].Cited by:   Svensson T, Yamaji T, Budhathoki S, Hidaka A, Iwasaki M, Sawada N, Inoue M, Sasazuki S, Shimazu T, Tsugane S () Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC by: 7.   Cunningham L, Aplenc R () Role of the folate-pathway and the thymidylate synthase genes in pediatric acute lymphoblastic leukemia treatment response. In: Innocenti F (ed) Cancer drug discovery and development: genomics and pharmacogenomics in anticancer drug development and clinical response. Humana Press, Totowa, pp – Google ScholarCited by:

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Although there is growing evidence that genetic variants of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the regulation of folate metabolism, interact with folate bioavailability in the association with cancer risk, few studies on childhood leukemia have investigated gene-environment interactions, and those that have included Cited by: Abstract 'Folate-pathway gene variants in cancer: haematological malignancies' is a book designed to assemble basic concepts investigating and furnishing new insights of biochemistry, molecular biology, clinical understanding and progresses, pharmacogenetics and pharmacogenomics in the field of cancer with particular addressing towards haematological malignancies.\ud In particular, all details Author: GEMMATI DONATO.

Variants in folate pathway genes as modulators of genetic instability and lung cancer risk. Piskac-Collier AL(1), Monroy C, Lopez MS, Cortes A, Etzel CJ, Greisinger AJ, Spitz MR, El-Zein RA.

Author information: (1)Division of Cancer Prevention, Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, TXby: The role of folate gene variants in the development of lung cancer has also been studied. In one study involving a large non-Hispanic white population, significant gene–diet interaction was observed between the TS 3′UTR (thymidylate synthase 3′UTR) polymorphism and alcohol consumption, and between TSER (thymidylate synthase promoter Cited by: Variants in Folate Pathway Genes as Modulators of Genetic Instability and Lung Cancer Risk Article in Genes Chromosomes and Cancer 50(1) January with 17 Reads How we measure 'reads'.

Along this line of thinking, the MTHFR C/T polymorphism has been proposed to provide protection against some forms of cancer. Collectively, our findings indicate that variations in the MTHFR gene have a role in female infertility. Besides altering homocysteine concentrations, MTHFR gene variants have been shown to play role in hemostasis 38 Cited by: Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.

tigated gene-environm ent interactions, and those that have. "Folate" (vitamin B 9) refers to the many forms of folic acid and its related compounds, including tetrahydrofolic acid (the active form), methyltetrahydrofolate (the primary form found in blood), methenyltetrahydrofolate, folinic acid, folacin, and pteroylglutamic acid.

Historic names includedfactor vitamin B c and vitamin M. The terms "folate" and "folic acid" have somewhat Legal status: US: OTC. Gene expression analysis reveals differential expression of certain folate pathway genes in subtypes of acute lymphoblastic leukaemia, based on lineage (T-cell or B-cell), hyperploidy or non-hyperploidy and presence or absence of gene fusion, suggesting that methotrexate dynamics might vary, depending on subtypes of acute lymphoblastic leukemia.

FOLATE CYCLE METABOLIC PATHWAY (PW) View Ontology Report Description Tetrahydrofolates (THF) are soluble forms of vitamin B9 that play essential roles in a number of metabolic pathways by mediating the transfer of 1-carbon (1C) units for the de novo synthesis of purines and thymidylates and for the re-methylation of homocysteine (Hcy) to methionine (Met).

The role of the folate pathway in pancreatic cancer risk. PLoS One. ; 13(2):e [ PubMed ] Free Access to Full Article Related Publications BACKGROUND: Pancreatic cancer is the third leading cause of cancer related deaths in the United States.

Rai V. “Folate pathway gene MTHFR CT polymorphism and risk of lung cancer in Asian populations.” Asian Pac J Cancer Prev. ;15(21)L, et al. Qiu LX, et al. “Lack of association between methylenetetrahydrofolate reductase gene AC polymorphism and.

Folate biosynthesis - Reference pathway [ Pathway menu | Organism menu | Pathway entry | User data mapping]. Little is known about the role of folate and polymorphisms associated with folate metabolism on prostate cancer risk in populations of African origin. We examined the relationship between serum folate and prostate cancer and whether any association was modified by genetic polymorphisms for folate metabolism.

The study was case–control in design and consisted of Cited by:   Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G. Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.

PLoS One. Apr 4;8(4):e doi: / genetic variants in 2 genes regulating folate metabolism, methylenetetrahydrofolate reductase (MTHFR)10 and methionine synthase (MTR),11 have been associated with increased schizophrenia risk.

MTHFR in particular has emerged as a strong candidate gene, with the low-functioning T allele significantly augmenting schizo-File Size: KB. Lacey et al. () constructed a cDNA library from a human carcinoma cell line that abundantly expressed the membrane form of the folate receptor.

A nearly full-length cDNA for the folate binder was isolated. The deduced amino acid sequence was not consistent with a typical membrane-spanning domain, but rather with a signal for anchoring via a glycosyl-phosphatidylinositol linkage.

Genetic Variants in the Vitamin D Receptor are Associated with Advanced Prostate Cancer at Diagnosis: Findings from the Prostate Testing for Cancer and Treatment Study and a Systematic Review. Research output: Contribution to journal › Article. Association of Folate-Pathway Gene Polymorphisms with the Risk of Prostate Cancer: a Population Cited by:   Methylenetetrahydrofolate reductase CT and AC gene variants in adult non-Hodgkin’s lymphoma patients: association with toxicity and survival.

Haematologica ; 92 Cited by:   Folate one-carbon metabolism (FOCM) plays an integral role in human development and disease. Genetic variants in folate pathway genes are associated with increased risk for neural tube defects (NTD) (and other congenital defects) [], cardiovascular disease [], cancer [] and cognitive decline [].Women taking supplemental folic acid prior to conception significantly reduce their chance of having Cited by: Cunningham L., Aplenc R.

() Role of the Folate-Pathway and the Thymidylate Synthase Genes in Pediatric Acute Lymphoblastic Leukemia Treatment Response. In: Innocenti F. (eds) Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response. Cancer Drug Discovery and Development™.

Humana PressCited by: 2. One example, and often the first mutation tested, is MTHFR. MTHFR stands for methylenetetrahydrofolate reductase— an enzyme that activates folic acid (turns it into folate) by adding a methyl group to it. That’s right, plain old folic acid—the same.

Childhood acute lymphoblastic leukemia (ALL) peaks around age 2–4, and in utero genetic epigenetic mother-fetus crosstalk might tune ALL onset during childhood life. Folate genes variably interact with vitamin status on ALL risk and prognosis.

We investigated DHFR and MTHFR gene variants in ALL children and their mothers to disclose their role in determining ALL onset age and by: 2. Abstract. Epidemiologic and mechanistic evidence suggests that folate is involved in colorectal neoplasia.

Some polymorphic genes involved in folate metabolism—methylenetetrahydrofolate reductase (MTHFRCT and AC), methionine synthase (MTRAG), methionine synthase reductase (MTRRA66G), cystathionine β-synthase (CBS exon 8, base-pair insertion), and Cited by: Folate and other B vitamins are essential co-factors of one-carbon metabolism, and genetic variants, such as polymorphisms, can alter the metabolism.

Furthermore, the adoption of food fortification with folic acid showed a decrease of homocysteine concentration. The aim of this study was to investigate the frequencies of the polymorphisms of enzymes and carrier proteins involved in one-carbon Cited by: 5. folate pathway is involved in biosynth of DNA in 3 places 1) 2 steps in the de novo synth of purines- 10 formyl tetrahydrofolate provides 2 carbons for the production of purines 2) in the reaction catalysed by thymidylate synthase, where methyl tetrahydrofolate-> dihydrofolate with the conversion of dUMP-> dTMP by thymidylate synthase.

Summary: Those with an MTHFR mutation may not benefit from folic acid supplements or fortified foods. Theoretically a build-up of unmetabolized folic acid could be harmful, but it’s yet to be proven.

Everyone Should Eat More Natural Folate. Foods high in folate contain many different compounds, including L-methylfolate (methylated folate). Similarly, our study could not confirm associations of folate pathway gene polymorphisms with EFS, except for the association with the MTHFR rs variant, suggesting that the overall contribution to outcome is small and cannot be explained by this variant alone.

Whether variants in a specific gene affect EFS rates may depend on the Cited by: A Genetic Mutation That Can Affect Mental & Physical Health MTHFR mutations are linked to depression, ADHD, migraines, miscarriage & more.

Posted Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS).

There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1.

The association between prostate cancer and breast cancer in the same family may be explained, in part, by the increased risk of prostate cancer among men with BRCA1/BRCA2 pathogenic variants in the setting of hereditary breast/ovarian cancer or early-onset prostate cancer.[] (Refer to the BRCA1 and BRCA2 section of this summary for more.

What causes Down Syndrome also has to do heavily with the genetics – and epigenetics – of the mother. Again, it is not just genetics here as genetics are greatly affected by so many things – as mentioned above.

It is known that genetics are affected by .Bhargava S, Ali A, Parakh R, Saxena R, Srivastava LM. Higher incidence of CT polymorphism of the MTHFR gene in North Indian patients with vascular disease. Vascular. Apr;20(2) Botto LD, Yang Q. 5,Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.

Am J Epidemiol. May 1;(9)