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Topic: MTHFR

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	Genomics\|HuGENet\|Reviews\|MTHFR Gene and Congenital Anomalies\|PubMed ID: 10791559
		Two MTHFR variants, however, the C677T and the A1298C mutations, are common in many populations and have been studied in relation to birth defects, mainly spina bifida and anencephaly.
		The expansion of MTHFR studies to other birth defects could be fruitful in light of the reports that the use of folic acid or multivitamins can be associated with a reduced occurrence of several types of birth defects, including some heart defects, oral clefts, urogenital anomalies, and limb deficiencies.
		The fraction of NTD cases attributable to the known MTHFR alleles is low and does not account for the 50 to 70% reduction in NTD occurrence resulting from the use of folic acid or multivitamins as observed in clinical trials.
	www.cdc.gov /genomics/hugenet/reviews/MTHFR.htm (5553 words)

	MTHFR - 5,10-methylenetetrahydrofolate reductase (NADPH) - Genetics Home Reference
		homocystinuria - caused by mutations in the MTHFR gene
		A specific version (variant) of the MTHFR gene may increase the risk of cardiovascular disease and certain kinds of birth defects.
		The MTHFR gene is located on the short (p) arm of chromosome 1 at position 36.3.
	ghr.nlm.nih.gov /gene=mthfr (741 words)

	Patent 6,833,243
		Methylenetetrahydrofolate reductase (MTHFR; EC 1.5.1.20) catalyses the NADPH-linked reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for methylation of homocysteine to methionine.
		MTHFR abnormalities may also contribution to the formation of other types of tumors, such as colorectal tumors, since high dietary folate has been shown to be inversely associated with risk of colorectal carcinomas.
		This method includes analyzing the MTHFR nucleic acid in a sample obtained from said subject and determining the presence of at least one heterozygous MTHFR mutant allele in the subject that is indicative of the risk for a psychosis or the propensity for a psychosis in the subject.
	www.pharmcast.com /Patents100/Yr2004/Dec2004/122104/6833243_Schizophrenia122104.htm (4306 words)

	Ask Dr. Stephan Moll - MTHFR and homocysteine
		Thus, the MTHFR mutation by itself is not a clotting disorder.
		It is the homozygous MTHFR mutation (2 "abnormal" genes) that is associated with higher homocysteine levels.
		While the MTHFR mutation can be associated with elevated homocysteine levels, the MTHFR by itself is, in the U.S. where food is fortified with folic acid, not a risk factor for arterial clots, venous clots, or pregnancy complications.
	www.fvleiden.org /ask/51.html (1059 words)

	MTHFR? - pregnancy-info.net - N01
		MTHFR is a blood clotting disorder and I to have had four miscarriages the last of which happened at 18 weeks.
		She said it is because the MTHFR gene is defective and what it usually does in convert folic acid into other nutrients that your body and the baby will need.
		I was diagnosed with MTHFR 2 gene mutation.
	www.pregnancy-info.net /QA/answers-MTHFR_ (11396 words)

	Factor V Leiden Mutation (FV:Q506)
		Methylenetetrahydrofolate reductase (MTHFR) is a regulatory enzyme in folate-dependent homocysteine remethylation, catalyzing the reduction of 5, 10-methylenetrahydrofolate to 5-methytetrahydrofolate.
		Consequently, patients with elevated plasma homocysteine levels should be evaluated for the thermolabile MTHFR polymorphism, since this information is useful in determining an individual patient’s therapeutic regimen as well as for genetic counseling of the patient and their family members.
		Definition and confirmation of the MTHFR mutation is necessary for genetic counseling of patients for themselves and family members.
	pathology.mc.duke.edu /coag/MTHFRlflyer2.html (482 words)

	6045 - MTHFR Variant Analysis - DNA Analysis
		The MTHFR 677 C-T variant (leading to an alanine to valine substitution) results in a thermolabile enzyme and decreased production of folate, which is a cofactor required for homocysteine remethylation.
		Homozygosity for the MTHFR 677 C-T variant is associated with mild to moderate hyperhomocysteinemia.
		Analysis for the MTHFR 677 C-T variant is offered as a specific DNA test, or as part of a Thrombophilia panel which also includes the Factor V Leiden R506Q mutation and the Prothrombin (Factor II) 20210G-A mutation.
	www.bcm.edu /geneticlabs/tests/dna/mthfrvariant.html (257 words)

	Kimball Genetics - MTHFR DNA Test
		The most common MTHFR mutation, C677T, is present in the homozygous state in 5-10% of the general Caucasian population.
		The frequency of C667T homozygosity is increased in individuals with coronary artery disease (to 17%), arterial disease (to 19%), and venous thromboembolism (to 11%).
		Testing for mutations in MTHFR is useful in identifying a genetic etiology for persistent hyperhomocysteinemia.
	www.kimballgenetics.com /tests-mthfr.html (367 words)

	Unaffected By The MTHFR Polymorphism : Metanx®
		The C677T mutation in the MTHFR gene is a Polymorphic mutation.
		The C677T mutation or MTHFR 677 C→T Polymorphism is characterizedby a mutation at the 677 base position where a cytosine base is replaced by a thymine.
		Prevalence of the MTHFR C→T Polymorphism by Genotype
	www.metanx.com /UnaffectedByTheCTPolymorphism (580 words)

	Hyperhomocysteinemia
		MTHFR is required to form 5-methyl tetrahydrofolate (as depicted above).
		Studies looking at the prevalence of homozygosity (both (2) copies of the gene are mutated) for the thermolabile variant mutation in MTHFR have shown a prevalence near 15% in European, Middle Eastern and Japanese populations, compared with a range at or below 1.4% in African Americans.
		These problems are seen in patients who are homozygous for either CBS deficiency or MTHFR deficiency (not to be confused with the thermolabile variant).
	www.med.uiuc.edu /hematology/PtHomocysteinemia.htm (1212 words)

	MTHFR - 5,10-methylenetetrahydrofolate reductase (NADPH) - aka: NADPH - Cancer GeneticsWeb
		MTHFR polymorphism, methyl-replete diets and the risk of colorectal carcinoma and adenoma among U.S. men and women: an example of gene-environment interactions in colorectal tumorigenesis.
		Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults.
		Prospective evaluation of the thrombotic risk in children with acute lymphoblastic leukemia carrying the MTHFR TT 677 genotype, the prothrombin G20210A variant, and further prothrombotic risk factors.
	www.cancerindex.org /geneweb/MTHFR.htm (199 words)

	BioMed Central \| Full text \| Association of MTHFRgene polymorphisms with breast cancer survival
		MTHFR is a key enzyme in the folate metabolism pathway and regulates the intracellular folate pool for synthesis and methylation of DNA [3,4].
		The second MTHFR genotype, A1298C, was significantly associated with survival in the unstratified analysis (Table 5).
		Folate intake is associated with the incidence of breast cancer and interactions between folate and MTHFR genotypes in relation to breast cancer risk have been observed in several epidemiological studies [2,14,15,17].
	www.biomedcentral.com /1471-2407/6/257 (5653 words)

	Folic Acid, Vitamin B12, MTHFR Genotypes, and Plasma Homocysteine - Health - RedOrbit (Site not responding. Last check: 2007-10-26)
		Their findings may partially explain the difficulty in demonstrating a benefit of vitamin supplementation in reducing cardiovascular end-point, as treatment may have to be tailored to subgroups of patients such as those with the MTHFR T allele (2,3).
		We investigated the value of MTHFR genotype for potentially differentiating vitamin therapy groups in patients presenting with peripheral vascular disease.
		MTHFR genotype was assessed by the homogeneous MassEXTEND (hME; Sequenom) assay, which uses primer amplification in combination with matrix- assisted laser desorption/ioniAition time-of-flight (MALDITOF) mass spectrometry to identity extension products (6).
	www.redorbit.com /news/health/543561/folic_acid_vitamin_b12_mthfr_genotypes_and_plasma_homocysteine/index.html?source=r_health (653 words)

	MTHFR (5,10-Methylenetetrahydrofolate reductase)
		MTHFR polymorphisms were also associated with other cancers as breast, head and neck, liver, gastric or lung cancers.
		Reduction of 5,10-methylenetetrahydrofolate (methyleneTHF), a donor for methylating dUMP to dTMP in DNA synthesis, to 5-methyltetrahydrofolate (methylTHF), the primary methyl donor for methionine synthesis, is catalyzed by MTHFR.
		The 677TT MTHFR allele was correlated with coronary artery disease.
	atlasgeneticsoncology.org /Genes/MTHFRID41448ch1p36.html (1187 words)

	Thrombosis Journal \| Full text \| Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients ...
		Heterozygous and homozygous MTHFR mutation were respectively in study group 46% and 29% vs control group 56% and 4%.
		MTHFR C677T gene polymorphism was searched in 63/69 patients (91%) and was found in 75% of patients.
		In the present study we investigated homocysteinemia and MTHFR C677T gene polymorphism and other common variables associated to homocysteine metabolism, such as folate and vitamin B 12 serum levels.
	www.arabmedmag.com /issue-15-02-2006/ophtalmology/main02.htm (3101 words)

	Folic Acid, B12, MTHFR gene mutation, Asacol - HealingWell.com Forum (Site not responding. Last check: 2007-10-26)
		MTHFR are the initials of an enzyme that a gene in our body produces.
		With the MTHFR gene mutation your body can't do what it is supposed to with the folic acid and it causes a chain reaction.
		The MTHFR gene mutation that leads to UC does not allow the body to properly methylate (change for the body to use) folic acid which leads to high levels of homocysteine.
	www.healingwell.com /community/default.aspx?f=38&m=743915 (2779 words)

	Thrombosis Journal \| Full text \| Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients ...
		Heterozygous and homozygous MTHFR mutation were respectively in study group 46% and 29% vs control group 56% and 4%.
		MTHFR C677T gene polymorphism was searched in 63/69 patients (91%) and was found in 75% of patients.
		Moreover, the role of hyperhomocysteinemia in patients affected by RVO seems to be confirmed also by the high frequency of MTHFR C677T homozigosity in patients affected by RVO compared to control group (table 2).
	www.thrombosisjournal.com /content/3/1/13 (3190 words)

	Re: MTHFR - questions for Dr. or others with knowledge about this (Site not responding. Last check: 2007-10-26)
		Cynthia - MTHFR testing is usually done in conjunction with other tests such as Factor V, Factor II, homocysteine and folate levels.
		Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that reduces 5, 10 methylenetetrahydrofolate to 5-methyl-tetrahydrofolate (5 MTHF).
		If the MTHFR gene is mutated or misspelled, it does not produce the enzyme.
	www.inciid.org /cgi-brd/getmsg.pl/9/1985 (317 words)

	Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis
		Thermolabile variants of the MTHFR enzyme are mildly deficient at reducing 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, a cofactor in the remethylation of homocysteine to methionine.
		One mutation, C677T, results in the MTHFR enzyme being 20% less efficient in metabolizing homocysteine, thus increasing serum levels, especially when plasma folate levels are at the lower end of normal.
		In patients with hyperhomocysteinemia, follow-up testing for the MTHFR mutation might be warranted to rule it out as a causative.
	www.labcorp.com /datasets/labcorp/html/chapter/mono/mg003500.htm (699 words)

	Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute ...
		Low-function variants of MTHFR have been reported to be protective for adult acute lymphocytic leukemia (ALL; ref. 11).
		MTHFR genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia
		Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia
	www.pnas.org /cgi/content/full/061408298v1 (5422 words)

	Infertility in 5,10-Methylenetetrahydrofolate Reductase (MTHFR)-Deficient Male Mice Is Partially Alleviated by Lifetime ...
		Effect of MTHFR deficiency and betaine supplementation to weaning (short-term betaine) on testis weights at (A) 6 dpp and (B) 8 mo of age.
		MTHFR and fertility Because of the observed improvements in testicular histology
		MTHFR is crucial to the folate pathway and disruption of this
	www.biolreprod.org /cgi/content/full/72/3/667 (6038 words)

	The MTHFR 677C > T polymorphism is associated with an increased risk of hepatocellular carcinoma in patients with ...
		The MTHFR 677C > T polymorphism is associated with an increased risk of hepatocellular carcinoma in patients with alcoholic cirrhosis -- Saffroy et al.
		MTHFR is involved in the folate and methionine metabolic pathways.
		The role of MTHFR in folate metabolism involving DNA methylation and DNA synthesis in the case of diets high in alcohol.
	carcin.oxfordjournals.org /cgi/content/full/25/8/1443 (3522 words)

	The Individualist: Methylenetetrahydrofolate reductase (MTHFR) polymorphism
		The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase.
		A variant of this enzyme, which is called "thermolabile MTHFR" or C677T/MTHFR is due to a single mutation of the MTHFR gene.
		A specific version (variant) of the MTHFR gene may increase the risk of cardiovascular disease and certain kinds of birth defects.
	www.dadamo.com /wiki/wiki.pl?Methylenetetrahydrofolate_reductase_(MTHFR)_polymorphism (629 words)

	AID :: MTHFR
		Determination of the C677T polymorphism in the coronary artery disease Marker gene MTHFR
		Genetic defects in genes of the involved enzymes are associated with hyperhomocysteinemia.
		A common polymorphism in the MTHFR gene correlates with the characteristics of a thermolabile MTHFR protein.
	www.aid-diagnostika.com /english/kits/GenID/rdb_2060e_mthfr.htm (329 words)

	Functional Characterization of Human Methylenetetrahydrofolate Reductase in Saccharomyces cerevisiae -- Shan et al. 274 ...
		Mutations in human MTHFR are known to cause clinical MTHFR deficiency, an autosomal recessive disorder (4).
		Yeast MET11 Encodes MTHFR-- To characterize human MTHFR in yeast, a strain lacking endogenous MTHFR was constructed.
		MTHFR and that the MET11 gene is essential for cell growth on
	www.jbc.org /cgi/content/full/274/46/32613 (4483 words)

	MTHFR questions - Genetic Issues
		MTHFR mutations are "inherited thrombophilia" which is a clotting disorder.
		First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." Here's my understanding of the distinctions.
		Your husband might not have the MTHFR mutation, but he has a similar mutation and between the mutation you passed on and the mutation he passed on, your children might already be considered homozygous and at high risk.
	www3.fertilethoughts.com /forums/showthread.php?t=351238 (8219 words)

	MTHFR Gene Polymorphism as a Risk Factor for Silent Brain Infarcts and White Matter Lesions in the Japanese General ...
		MTHFR Gene Polymorphism as a Risk Factor for Silent Brain Infarcts and White Matter Lesions in the Japanese General Population: The NILS-LSA Study -- Kohara et al.
		MTHFR Gene Polymorphism as a Risk Factor for Silent Brain Infarcts and White Matter Lesions in the Japanese General Population
		In this population, the MTHFR genotype was significantly
	stroke.ahajournals.org /cgi/content/full/34/5/1130 (3046 words)

	The Effect of Folic Acid Deficiency and MTHFR C677T Polymorphism on Chromosome Damage in Human Lymphocytes in Vitro -- ...
		are heterozygous (CTs) and homozygous (TTs) for this MTHFR polymorphism
		of the MTHFR A1298C and methionine synthase A2756G polymorphisms
		MTHFR activity in TTs (40) because the cofactor for MTHFR,
	cebp.aacrjournals.org /cgi/content/full/10/10/1089 (4613 words)

	Does the Interaction between Maternal Folate Intake and the Methylenetetrahydrofolate Reductase Polymorphisms Affect ...
		MTHFR* C677T and MTHFR A1298C genotypes in infants, mothers, and fathers in association with the risk of cleft lip with or without cleft palate, the Netherlands, 1998–2000
		In conclusion, MTHFR C677T and MTHFR A1298C polymorphisms are
		A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies.
	aje.oxfordjournals.org /cgi/content/full/157/7/583 (4308 words)

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