Mthfr A1298c Homozygous Diet

MTHFR polymorphisms A1298C allele, especially in its homozygous expression, can result in a disturbance in the biochemical tetra-hydro biopterin (BH4) and methylation pathways. MTHFR (methylenetetrahydrofolate reductase) is an enzyme encoded by the MTHFR gene. Sometimes this includes medications, and informed parents who know their child is homozygous for MTHFR mutation C677T can opt out of interventions that may not be safe. The heterozygous MTHFR gene mutation means the mutation is on one copy of the gene, while Homozygous means it is on both copies of the gene. Also i take 75mg of aspirin a day to help thin the blood as this also comes with mthfr. If you can check with an expert or MTHFR. But the information gets really fuzzy around a positive for only the a1298c hetero. My OB has brushed off the MTHFR test as nothing to be concerned about however, everything that I read on this says that my body is not able to process folic acid, b6, b9 and b12 vitamins. There are two MTHFR gene variants, called C677T and A1298C which are also known as Polymorphisms. In fact, scientists and geneticists are estimating 39-50 percent of the population has at least one form of the MTHFR gene mutation. There are two key variants we test for (as at this stage there is little or no research on the others). I am GF, DF, SY and have a very clean diet. MTHFR stands for methylenetetrahydrofolate reductase, a gene that codes for an enzyme of the same name. Because MTHFR is a genetic mutation, it's easy to think we can't do anything for it. MTHFR Mutations. heterozygous AC genotype of MTHFR A1298C, (f) homozygous mutant CC. It is an enzyme that converts the folate you eat into the active form that your body needs to use. Caco-2 with the homozygous TS 6-bp ins/ins and MTHFR 677 T/T and 1298 C/C genotype, was the most 5-FU resistant cell line. MTHFR A1298C MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). As is true for any gene, the DNA code of the MTHFR gene can vary. After seeing a neurologist for 7 years, I finally sought out a naturopath. And though it is rather rare, it remains possible to have both MTHFR variants. A1298C The other MTHFR mutation we test for is for the A1298C. People who have a heterozygous or homozygous variant in MTHFR 1298 are much more susceptible to the harmful effects of heavy metals. Heterozygous MTHFR A1298C mutation is common and does not seem to pose too much risk. 22 Interesting research suggests that the C677T and A1298C variants and the resulting hypomethylation of DNA may contribute to an adaptive phenomenon affecting muscle cells and resulting in increased muscle mass. Homozygous = 2 copies of the gene, one each from your father or mother; MTHFR A1298C homozygous = 40% loss of function; Common Difficulties with the A1298C mutation. MTHFR Homozygous - please help!!! In: Finding a Resolution for Infertility Hello all, I just found out I am homozygous for MTHFR A1298C, I have had two miscarriages in the past so this probably contributed. Having a heterozygous SNP of C677T can cause 40% methylation defect and having homozygous of that same SNP can lead to 70-90% methylation defect. This is an area of explosive research, evolving all the time, but an excellent example of the power to use environmental exposures, diet, and supplementation to reclaim control over your health. Potter,2 and Cornelia M. The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle. How well you look after yourself in terms of diet and lifestyle can play a big part in how much a change to the MTHFR gene will affect you. Heterozygous MTHFR A1298C is thought to have mostly normal MTHFR activity and homozygous MTHFR A1298C (C1298C) have about 65% normal activity (so 35% compromise). (There are many SNP’s for methylation, but these are the two most common ones). People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease. The genetic code of the MTHFR enzyme must be perfect in order for it to function properly. Download and listen to the Bulletproof Radio interview with Dr. Good gut health with adequate intestinal flora and a balanced diet is all that is needed for. Doni, author of The Stress Remedy, explains how MTHFR mutations are related to adrenal burnout and chronic fatigue, as well as how to get your groove back. MTHFR is a a key regulatory enzyme in the metabolism of folate. Some have noticed that even simply having one mutation with A1298C can eventually start expressing itself, especially as our bodies age. Variants in the MTHFR gene, including A1298C, can cause elevated homocysteine levels and has been implicated in many health issues including repeat miscarriage. Testing If you have any of the symptoms above or have a family history with MTHFR mutations I highly recommend testing for both C677T and A1298. The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle. MTHFR: Secret Enzyme With A Huge Impact Science has only recently identified a common gene mutation that's a silent driver of many common ailments of which, the public is mostly unaware. After struggling with a disease for so many years, it is natural to think we have tried everything. You can have the following two common MTHFR genetic mutations: C677T Heterozygous +/- — 40% reduction in MTHF production Homozygous +/+ — 75% reduction in MTHF production A1298C Heterozygous +/- — 20% reduction in MTHF production. Bottom line: If one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), having a heterozygous A1298C mutation may contribute to cardiovascular disease, depression, fibromyalgia and others. Single-nucleotide polymorphism testing of DNA analyzes C677T and A1298C. Over 50 known mutations in this gene cause reduced function of the enzyme. In general, the A1298C defect is correlated with more neurological problems, while the. Doni’s Series on How Genetic Mutations Affect Your Health Today I am going to talk about the relationship between fatigue. I have had severe allergic reactions to sulfa antibiotics in the past. In summary, the MTHFR A1298C polymorphism may be as relevant in predicting colon cancer risk as the C677T variant, at least among women. The MTHFR mutation is fairly common in the general population. Some mutations of the MTHFR gene may be associated with health problems and complications in pregnancy. Two MTHFR genes commonly studied are C677T and A1298C (these labels indicate the mutation's appearance and location on the gene). MTHFR Deficiency Diagnosis and Treatment. With the MTHFR gene, the defect usually occurs in 2 locations - C677T and A1298C. A1298C is the other common MTHFR SNP. Lyme generates ammonia as one of the many toxins it puts out. Although MTHFR is not an uncommon polymorphism among the general population, research has shown it occurs at higher prevalence in individuals with autism spectrum disorders. If your diet isn't up to scratch, then supplementation can be useful and here's a whole post about that. If you have two copies of the C677T gene (this means you are homozygous for this variant) then the MTHFR enzyme's activity can drop by 70-75%. Homozygosity for the p. 43, with 18. Request PDF on ResearchGate | MTHFR C677T and A1298C polymorphisms: Diet, estrogen, and risk of colon cancer | 5,10-methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. When you have MTHFR you should know if you don’t already that eating a healthy diet is very important, but what many people won’t tell you is that there are some foods, even those considered healthy, that can be especially bad for those who have MTHFR and poor methylation. One of the more well-studied variations is known as an MTHFR mutation; more specifically MTHFR C677T and A1298C. A slight upward trend in disease activity was observed in genotypes 2/2 of polymorphisms (MTRR A66G p = 0. I have also taken folic acid completely out of my diet. Overview of Polymorphisms. Health Problems that may be related to MTHFR. The reason I had blood work up done was because is in May 2013 I had a saddle PE and DVT. The results showed that more Northern European women have the Factor V Leiden gene mutation and even being heterozygous for this mutation can increase the risk of venous thrombosis by 3-7%. Some have noticed that even simply having one mutation with A1298C can eventually start expressing itself, especially as our bodies age. Heterozygous MTHFR A1298C mutation is common and does not seem to pose too much risk. com reaches roughly 382 users per day and delivers about 11,453 users each month. More specifically, the variation MTHFR C677T and A1298C. If you have one of each, you are "compound heterozygous for MTHFR mutations". Reduced enzyme activity of MTHFR caused by MTHFR polymorphisms is a genetic risk factor for increased levels of homocysteine. The Consequences of MTHFR Mutations. An MTHFR mutation means you need to strongly consider your dietary choices in order to stay healthy for longer. Homozygous for the C677T mutation and negative for the the A1298C mutation in the mthfr gene. Summary: Women with an MTHFR mutation who are planning to have a child or already less than 13 weeks pregnant should be supplementing with 5-MTHF rather than folic acid. 37, respectively). For what concerns epidemiological and molecular analysis results, Table 2 shows MTHFR C677T and MTHFR A1298C polymorphism distribution in 58 women for the breast cancer cohort and in 58 controls. Slattery,1 Bette Caan,3 John D. Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. Benjamin Lynch on the topic of MTHFR when he was a guest on my Blog Talk Radio show. It is an enzyme that converts the folate you eat into the active form that your body needs to use. If you have one copy of this gene (heterozygote) then activity can be reduced by 33-35%. While COMT and MTHFR are linked functionally, with MTHFR in particular able to exert a large effect on COMT activity, they do not appear to be linked genetically. There are different variations of the MTHFR gene defect. Homozygous means that you inherited a mutation from your mother AND your father and, therefore, have both copies of the defective gene. A Pediatrician Goes In-depth Into MTHFR. Methylation is one of the ways that the body makes sure the right genes are turned on, and the ones that we don’t want get turned off. I took the recommended 1000 mcg dose just once and within 25 minutes started to feel awful (previously felt fine and was on my way to work out). Because the current evidence so loosely supported, there are many scientists who challenge the notion that miscarriages and the MTHFR mutation are somehow linked. I have also tested extremely high levels of B6, even when I am not taking any supplements. This particular gene is associated with depression , neurotransmitter imbalances, and other complex problems, like recurrent miscarriage or. For Latinos, many studies have examined these polymorphisms and breast cancer susceptibility, yielding no concise result. However, having a common variant in the MTHFR gene does NOT change your medical care. MTHFR 101 is a guide designed to remove the frustrating research and confusion that comes with this genetic variation. Test results just came back confirming the MTHFR C677T and A1298C mutations and FL1953 (although I'm a little confused about the lab results - more below). Could The MTHFR Gene Hold The Key To Healing And Detoxification? May 2, 2014 Amie Valpone's healthy glow and vibrant energy was much more than simply dedication to a healthy lifestyle to obtain. Testing for an MTHFR mutation is a bit of a hot topic in the Functional Medicine community lately. FAQ's What is MTHFR? This acronym stands for Methylene-TetraHydroFolate Reductase. I am currently a RN in a cardiac/neuro icu unit, so unforuntunately just being pregnant I already am aware of a lot of the possible complications. This is especially true if you've inherited the mutation from both parents or have both forms of MTHFR mutations. This happens because thyroxine (T4) helps produce the body’s most active form of vitamin B2, flavin adenine dinucleotide know by its nickname FAD. Patients with homozygous MTHFR C677T can have moderate (16-30umol/L) or intermediate (31-100umol/L) hyperhomocysteinemia. Over this time, I have found the MAJORITY of my patients – about 75% – have at least a single MTHFR mutation and upwards of 40% of my patients have a double mutation (either “heterozygous” (one of each) A1298C & C677T or “homozygous C” (two C677T) or “homozygous A” (two A1298C). I have been diagnosed with homozygous A1298C MTHFR mutation. I have a homozygous mutation in my gene C677T, that means that the mutation is on both alleles (the two + in the red slot), while the A1298C is just fine. Genet Test Mol Biomarkers 16(3):198–202 PubMed CrossRef Google Scholar. The other frequent MTHFR mutation in exon 7, the A1298C transversion, is not associated with thermolability of the enzyme with. 0% of the control samples had a mutant homozygous MTHFR 677TT genotype, and the frequency of allele T was 25. MTHFR C677T Homozygous (2 mutations) or Compound Heterozygous (1 mutation of C677T and 1 of A1298C): Take 3 capsules per day with meals Or take as directed by your healthcare professional. About 85% of the general population carry at least one variant of the MTHFR gene, increasing their risks for cardiovascular diseases. Over this time, I have found the MAJORITY of my patients – about 75% – have at least a single MTHFR mutation and upwards of 40% of my patients have a double mutation (either “heterozygous” (one of each) A1298C & C677T or “homozygous C” (two C677T) or “homozygous A” (two A1298C). A low-folate diet was prepared using unenriched flour and individual food items analyzed microbiologically for folate content. I requested the MTHFR gene mutation test from my primary doctor and behold, it actually came back. If your diet isn’t up to scratch, then supplementation can be useful and here’s a whole post about that. Normal activity refers to the way your body converts folic acid to 5-L-methyltetrahydrafolate (the active form) so that it can be used. mthfrc677t. I am homozygous for this mutation, which means that both of my parents also have this mutated gene. It’s my understanding that both a homozygous 677T or homozygous a1298c needs treatment. I have celiac and had a premature birth of my son. Types of MTHFR mutation. This (MTHFR and folic acid metabolism) can be the missing link for key nutrients, and it’s not for lack of availability, and it’s not for lack of absorption. "If you already know what MTHFR is, perhaps you know that you have a variant of this gene such as C677T or A1298C. Compound heterozygous mutations occur when you have a copy of both A1298C and C677T. MTHFR gene mutation, the journey thus far. It assess with you have one copy, (heterozygous), or two copies (homozygous), of the gene mutation. 677TT individuals (homozygous) are said to have mild MTHFR deficiency. MTHFR A1298C. The MTHFR mutation is fairly common in the general population. The central role of methylenetetrahydrofolate reductase (MTHFR) in the folate metabolism renders MTHFR gene polymorphisms (C677T and A1298C) potential modulators of a variety of disorders whose development depends on folate/homocysteine imbalance. My first pregnancy (14 years ago) resulted in a pre-term birth at 28 weeks and I have had 2 miscarriages since. Although MTHFR is not an uncommon polymorphism among the general population, research has shown it occurs at higher prevalence in individuals with autism spectrum disorders. The gene's role is very complex, and recent discoveries have been focused around the MTHFR gene polymorphisms (or variants). Two of the most studied SNPs have been MTHFR C677T and MTHFR A1298C. As human could not make folic acid which must be obtained from the diet. Only two of these are known to be particularly problematic: C677T and A1298C. Of these, mutations on the points at C677T and A1298C seem to have the most clinical significance. It is a gene that codes the body on how to turn an amino acid called homocysteine into methionine, a chemical compound required for DNA development and cell regeneration. Information on EC 1. The only significant variation in the female partner is PAI-1 4G/4G allele. Unfortunately, not only is the concept of genetics difficult, but the terminology makes it even more confusing. Those who are C/T or T/T have less MTHFR enzyme function than those who have the C/C wildtype. Over this time, I have found the MAJORITY of my patients – about 75% – have at least a single MTHFR mutation and upwards of 40% of my patients have a double mutation (either “heterozygous” (one of each) A1298C & C677T or “homozygous C” (two C677T) or “homozygous A” (two A1298C). Heterozygous mutations include C677T and A1298C. (Initially I took MetanX but it was very expensive with my insurance and my drs said I could switch to Folplex. MTHFR Homozygous A1298C: While firm research statistics aren’t available for the prevalence of this, it’s thought that approximately 20. Reductase (MTHFR) MTHFR is the gene responsible for production of the MTHFR enzyme, which is the rate-limiting enzyme in folate cycle C677T and A1298C are the most well-known MTHFR enzyme is responsible for converting 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate 5-methyltetrahydrofolate = bioactive form of folate. For children under 12 years old consult their pediatrician. You are not alone. Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. Aspergers Women Protein C Folic Acid Health And Wellness Health Tips Health Resources Lyme Disease Autoimmune Thyroid. Thyroid Health and MTHFR. A slight upward trend in disease activity was observed in genotypes 2/2 of polymorphisms (MTRR A66G p = 0. This website looks at your methylation genetics just by reading your 23andMe raw data. There are two MTHFR gene variants, called C677T and A1298C, that have been an active area of study. I took the recommended 1000 mcg dose just once and within 25 minutes started to feel awful (previously felt fine and was on my way to work out). Eating a healthy MTHFR diet is a mainstay of treatment for the MTHFR mutation. Bottom line: If one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), having a heterozygous A1298C mutation may contribute to cardiovascular disease, depression, fibromyalgia and others. The 85% SolutionThe newest book from best-selling (10 #1 books on Amazon) author Dan Purser MD. BH4 is what the body uses to detox ammonia. BH4 is depleted further by mercury, lead and aluminum. Those who are C/T or T/T have less MTHFR enzyme function than those who have the C/C wildtype. The worst homozygous mutations are 677TT and 1298CC. Because MTHFR is a genetic mutation, it’s easy to think we can’t do anything for it. after having completed MTHFR testing and diet or supplement modification. The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle. Another reason to be aware of MTHFR and maintain a healthy high folate diet along with supporting supplementation. Potter,2 and Cornelia M. My mother and older sister were found to have one copy of the C677T mutation and one of the A1298C mutation (this is called “compound heterozygous”; the U. The MTHFR gene sits on Chromosome 1. The MTHFR A1298C mutation may affect you if you are either: Homozygous A1298C MTHFR mutation; Compound heterozygous A1298C + C677T MTHFR mutation (like me) My current stance on the heterozygous MTHFR A1298C mutation is that it is very common and does not seem to pose too much concern unless there are other methylation or cytochrome mutations. It’s not as easily used by people with an MTHFR mutation and may interfere with the absorption of l-methylfolate. If you have two "bad" copies of A1298C, this is called being homozygous for A1298C. Doni Wilson explains what it means to have an MTHFR mutation, why it's particularly important for women to address, and how to recover without drugs. There may be other methylation defects, test results not back yet. The latest diagnostic techniques used to identify a deficiency in MTHFR begin with a simple test of homocysteine concentrations in plasma from either whole blood samples or "total homocysteine measurement in cell free amniotic fluid is also possible," (Fowler, B. Our results showed that heterozygous and homozygous A1298C mutations resulted in a higher folate level compared with that resulting from the wild-type genotype (adjusted p = 0. Part 7 of Dr. In the case of the 2 genes this then approximately equates to the following: MTHFR C677T heterozygous = 30-40% loss of function; MTHFR C677T homozygous = 60-70% loss of function; MTHFR A1298C heterozygous = some % loss of function - Research is NOT clear. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent: Homozygous: the same gene passed on from both parents- can occur if both pass on the 677 mutation, or the 1298 mutation. Having the MTHFR mutation is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptom, and optimize your overall health. "Hetero" means different, "Homo" mean the same. org One of the more well-studied variations is known as an MTHFR mutation; more specifically MTHFR C677T and A1298C. I haven't received the results of that or my homocysteine levels. Those who are C/T or T/T have less MTHFR enzyme function than those who have the C/C wildtype. As is true for any gene, the DNA code of the MTHFR gene can vary. How well you look after yourself in terms of diet and lifestyle can play a big part in how much a change to the MTHFR gene will affect you. Assessment of diet and other exposures tase (MTHFR) irreversibly converts 5,10-methylene- Participants completed a semi-quantitative food tetrahyrdofolate to 5-methylenetetrahydrofolate, the frequency questionnaire, previously validated in the primary circulating form of folate. 1 (Oh, and yes, doctors do joke amongst themselves about “MTHFR” resembling “Mother-Father,” as well as another word that I cannot write here!). Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. mthfrc677t. 01) than subjects without the mutation (CC). I also believe that metal toxixity is a factor for celiac. For Latinos, many studies have examined these polymorphisms and breast cancer susceptibility, yielding no concise result. There is a MTHFR gene and a MTHFR enzyme, both of which play key roles in folate metabolism 1. Both genes affected. If you have one copy of this gene (heterozygote) then activity can be reduced by 33-35%. Those with homozygous MTHFR C677T are often advised to take their folate requirements more seriously. Doni Wilson explains what it means to have an MTHFR mutation, why it’s particularly important for women to address, and how to recover without drugs. 37, respectively). Information on EC 1. But the information gets really fuzzy around a positive for only the a1298c hetero. Strive to eat a diet that is healthy in general and includes folate-rich foods. MTHFR A1298C (rs1801131) or GT + MTHFR C677T (rs1801133) or AG is referred to as "compound heterozygous" (a single gene mutation of each type) And it's very rare, but some folks can even have 3 mutations (a double mutation in one gene and a single mutation on the other) or conceivably 4 mutations (though I've not heard of any specific. This variant results in a decrease MTHFR activity, which is more pronounced in the homozygous (CC) than in the heterozygous (AC) or wild type (AA) genotype. The particular neurotransmitters affected include serotonin, dopamine, epinephrine, and norepinephrine. We should be focusing on folate instead of folic acid. Second, the C677T and A1298C variants are very common: in some ethnicities, more than 50 percent of people have at least one copy of one of these variants. ERRORS OF B GROUP VITAMIN METABOLISM: Summarising the information around what is known about genetic errors for the way B12 and other B group vitamins are utilised in the body is probably a task for a geneticist, molecular biologist or biochemist, or all three. MTHFR C677T. ” Perhaps we are closer to that belief than we’ve ever been. The C677T variant has a homozygosity frequency of up to 30%. After seeing a neurologist for 7 years, I finally sought out a naturopath. Compound Heterozygous MTHFR - now what? I intended this information to be viewed by my friends and family about my personal history and background with MTHFR, but then it occurred to me that others with the condition may also stumble upon my blog when googling MTHFR so I should probably provide some helpful information to them as well!. Rootine Science: Alternative MTHFR gene mutations. Having the MTHFR mutation is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptom, and optimize your overall health. Recommended MTHFR a1298c Supplements. I have PAI-1 4g/5g and MTHFR A1298C mutations. The results showed that more Northern European women have the Factor V Leiden gene mutation and even being heterozygous for this mutation can increase the risk of venous thrombosis by 3-7%. This mutation also impacts the MTFHR activity and the homocysteine levels but to a lesser extent than C677T [ 1 ]. » The Missing Link To Weight Loss - MTHFR; By supplementing the diet with a daily dose of Methylfolate which is an activated form of folate, and adhering to a. Carnahan, I have recently had some blood work done and it revealed that I am homozygous for MTHFR Mutation A1298C. In summary, the MTHFR A1298C polymorphism may be as relevant in predicting colon cancer risk as the C677T variant, at least among women. the MTHFR/A1298C homozygous mutation may be a genetic risk factor for male infertility. The normal wild type (CC) MTHFR gene gives instruction for production of the methylenetetrahydrofolate reductase enzyme. Some researchers say homozygous mutations can inhibit MTHFR. The heterozygous (AC) and homozygous (CC) carriers have a reduction of the enzymatic activity of 15% and 30%. Benjamin Lynch on the topic of MTHFR when he was a guest on my Blog Talk Radio show. MTHFR C677T is a mutation or polymorphism of the gene MTHFR. It’s interesting to note that the autopsy revealed his serum folate and B12 were within normal limits; however his homocysteine (Hcy) was elevated. It often results in a folate deficiency which can really make our PCOS symptoms worse. Only to eat green foods and eliminate processed foods. MTHFR C677T Homozygous = 70% loss of function; MTHFR A1298C Homozygous = 40% loss of function; B12 for MTHFR. There are 50+ gene variants. There is a MTHFR gene and a MTHFR enzyme, both of which play key roles in folate metabolism 1. hey mthfr, welcome! Genetics can be a MTHFR but you're not alone. This difference may be explained by a balancing effect of the Mediterranean diet in heterozygous, which has a higher activity of MTHFR compared to homozygous. Approximately 25% of people eon the planet have this particular mutation. I would like to have a diet plan to lose weight as well. 1 (Oh, and yes, doctors do joke amongst themselves about “MTHFR” resembling “Mother-Father,” as well as another word that I cannot write here!). heterozygote, which involves both C677T and an A1298C condition (where an Adenine residue changes to a Cytosine residue at the 1298th position) lead to the disruption of the MTHFR gene (Van der Put et al. MTHFR A1298C heterozygous = 20-30% loss of function. Hacking this MTHFR Gene. This variant results in a decrease MTHFR activity, which is more pronounced in the homozygous (CC) than in the heterozygous (AC) or wild type (AA) genotype. But they may cause an exaggerated response to poor diet or lifestyle choices that others can. The MTHFR gene, short for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase) gene, is located on the short arm of chromosome 1 (1p36. While I have the severe form of this particular mutated gene, my understanding is that the MTHFR C677T gene is much worse in many cases. The most common homozygous MTHFR mutations are T677T and C1298C. BH4 is important for the detoxification of ammonia. This article attempts to clarify what they are, in a way you can understand. acupuncture adrenal fatigue autism breast health cancer CFS/ME children COMT detoxification diabetes doctors exercise fertility fibromyalgia flox food genetics glutathione health health discoveries homocysteine household hypothyroid Lyme melatonin mold mthfr MTHFR A1298C MTHFR C677T news nutrition pregnancy recipes testing tips tongue-tie. The same is true for someone who is homozygous for MTHFR A1298C. r/MTHFR: This subreddit is for people wanting to learn more and talk about the MTHFR (Methylene tetra hydro folate reductase) gene mutation. Homozygous - having two copies of the C677T mutation; According to Dr. So far I’ve talked a little about what foods and substances you should avoid if you have MTHFR gene mutations and what I’m doing to improve my health. The results showed that more Northern European women have the Factor V Leiden gene mutation and even being heterozygous for this mutation can increase the risk of venous thrombosis by 3-7%. If you can check with an expert or MTHFR. To keep it simple, we’ve only been discussing the C677T mutation (or, “polymorphism”) within the MTHFR gene. Homozygous mutations are more likely to cause health problems. I carried my daughter to full term in 2005, but had preeclampsia with her and severe hypertension and ended up having an emergency C-section. Each of your parents passed down a different mutation. The MTHFR gene provides the instructions for making that MTHFR enzyme and variations in the MTHFR gene may therefore affect enzyme function. If you have two copies of the C677T gene (this means you are homozygous for this variant), then the MTHFR enzyme's activity can drop by 70-75 percent. BH4 is a key factor in the synthesis of serotonin, dopamine, epinephrine, and norepinephrine. Mthfrgenehealth. [*]Adhering to an anti-inflammatory diet -- the Mediterranean diet (high in vegetables and some fruits, fish, small amounts of organic/free-range chicken and meat, use of olive oil and quality fats (nuts and seeds, avocado, coconut oil), very little amounts of sugars and simple carbs. Even when combined with C677T MTHFR mutations, the A1298C types still do not tend to have very elevated homocysteine. The A1298C is instead related to neurological inflammation. Pregnancy and MTHFR - If you are planning a pregnancy and are positive for the homozygous MTHFR mutation, you may also need to add either a low-dose aspirin or blood thinner to your regimen to reduce the risk of blood clots particularly, if you have had recurrent miscarriages, a DVT or systemic lupus erythematosus (SLE). ERRORS OF B GROUP VITAMIN METABOLISM: Summarising the information around what is known about genetic errors for the way B12 and other B group vitamins are utilised in the body is probably a task for a geneticist, molecular biologist or biochemist, or all three. The wildtype genotype is GG (Val/Val) since it contains no mutations. A clean diet, home, body, and mind are a part of this package. People with an “A” allele for this mutation present a 35% decrease of the normal enzyme activity and “AA” individuals a 70% decrease. Cobalamin is necessary for the MTHFR gene to function. PAI-1 depends on what mutation you have- mine is iffy, 50% of the people won't have an issue, as you have one normal and one abnormal gene. To keep it simple, we’ve only been discussing the C677T mutation (or, “polymorphism”) within the MTHFR gene. I visited a hematologist shortly after (5 years ago) at Rush University in Chicago (not exactly a podunk hospital). The MTHFR A1298C variant results in a glutamine to alanine change at codon 429 (exon 7) and is found in a regulatory region of the MTHFR enzyme. A Pediatrician Goes In-depth Into MTHFR. There is a MTHFR gene and a MTHFR enzyme, both of which play key roles in folate metabolism 1. 1 (Oh, and yes, doctors do joke amongst themselves about “MTHFR” resembling “Mother-Father,” as well as another word that I cannot write here!). Heterozygous MTHFR A1298C is thought to have mostly normal MTHFR activity and homozygous MTHFR A1298C (C1298C) have about 65% normal activity (so 35% compromise). The most well studied gene in terms of health is the methylenetetrahydrofolate reductase or MTHFR. I have a homozygous MTHFR mutation. ” Perhaps we are closer to that belief than we’ve ever been. 7 …so, what to do about it? So far, we learned that MTHFR is linked to an increased risk of several factors related to fertility in men and women, these risks are reduced by getting folate according to doctors' recommendations. The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle. A1298C, may lead towards the development of fibromyalgia, schizophrenia, migraines, nerve pain, Parkinson's, chronic fatigue, and dementia. C677T and A1298C. mthfr a1298c | mthfr a1298c | mthfr a1298c mutation | mthfr a1298c heterozygous | mthfr a1298c variant | mthfr a1298c homozygous | mthfr a1298c gene mutation |. 1995, 1996b, 1997) and causes a drastic reduction of the MTHFR enzyme. Download and listen to the Bulletproof Radio interview with Dr. About The A1298C Mutation The A1298C mutation is relatively common but it is NOT associated with elevated homocysteine levels like the C677T mutation. So there ends up being four possible combinations of MTHFR 677t and another four for MTHFR 1298. MTHFR C677T. Summary: Women with an MTHFR mutation who are planning to have a child or already less than 13 weeks pregnant should be supplementing with 5-MTHF rather than folic acid. Some people are homozygous. Being homozygous for MTHFR A1298C leads to 60% of normal enzyme function. I have a list of resources on the MTHFR page that you might find helpful. Some researchers say homozygous mutations can inhibit MTHFR. Compound heterozygous mutations occur when you have a copy of both A1298C and C677T. We can source folate through our diet by ensurIng that we eat a variety of leafy greens. The reason I had blood work up done was because is in May 2013 I had a saddle PE and DVT. There are people with heterozygous (1 copy of C677T, passed on from one parent) and homozygous (2 copies of C677T, passed on from both parents) MTHFR mutations. I have a homozygous MTHFR mutation. Two of the most studied genetic defects are MTHFR C677T and MTHFR A1298C. Green vegetables, folic acid fortified foods, and vitamin B supplements can help to reduce the risk for high blood homocysteine, a strong risk factor for cardiovascular diseases. The 677T allele of the MTHFR gene polymorphisms showed. This article attempts to clarify what they are, in a way you can understand. MTHFR officially stands for Methylene tetrahydrofolate reductase and to make things even more confusing… the MTHFR enzyme (what most people are talking about in regards to detoxification since an enzyme does the work) is coded for by the MTHFR gene (the gene is like the blueprint and instructions for your body to build the enzyme). My levels for homocysteine were low (normal 5 umol/L) my Factor VIII was 183%. Heterozygous MTHFR A1298C is thought to have mostly normal MTHFR activity and homozygous MTHFR A1298C (C1298C) have about 65% normal activity (so 35% compromise). Of these, mutations on the points at C677T and A1298C seem to have the most clinical significance. Of course, since the comprehensive testing includes MTHFR as well, most people don’t like the fact that they wasted money on the MTHFR test in the first place! But whether you want to go for MTHFR test alone – or go the whole hog and get a big picture – is entirely up to you. MTHFR polymorphisms A1298C allele, especially in its homozygous expression, can result in a disturbance in the biochemical tetra-hydro biopterin (BH4) and methylation pathways. On the other hand, if someone is heterozygous for MTHFR C677T or A1298C then this means that they inherited one copy of the defective gene, and inherited a normal gene from the other parent. Second was a 4 1/2 week natural miscarriage or chemical pregnancy. Consume more folate and vitamin B12. Testing for an MTHFR mutation is a bit of a hot topic in the Functional Medicine community lately. What is the MTHFR Gene? There are currently a total of 34 mutations in the MTHFR gene. Some have noticed that even simply having one mutation with A1298C can eventually start expressing itself, especially as our bodies age. ” Perhaps we are closer to that belief than we’ve ever been. For instance, a 2004 study that focused on blood donors of Irish heritage found that 46. MTHFR A1298C MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). It is very important to reduce these in your diet and environment. I am worried about these results, as I have so many other things going on (various viruses and the lyme & co-infections and Lord knows what else I haven't yet discovered). The MTHFR Gene Mutation So I went and had my blood test the other day to find out if I have this gene mutation and if so what types. MTHFR Homozygous A1298C: While firm research statistics aren't available for the prevalence of this, it's thought that approximately 20 percent of Americans may be homozygous for this mutation. The test results could comeback as an individual having two copies of the A1298C mutations (homozygous) or have one copy (heterozygous) or non at all. With Hashimoto’s and hypothyroidism, some people develop a sluggish MTHFR enzyme. There are different variations of the MTHFR gene defect. The most common MTHFR gene mutation is the C677T mutation. When i was pregnant they had me on baby aspirin, but based on literature the A variant does not seem to produce the same issues with clotting. And though it is rather rare, it remains possible to have both MTHFR variants. Carnahan, I have recently had some blood work done and it revealed that I am homozygous for MTHFR Mutation A1298C. Ben Lynch, individuals who are: Homozygous for C677T have an estimated 70% loss of function; Heterozygous for C677T have an estimated 40% loss of function; There is a lot of debate about whether those with the A1298C mutation experience diminished function. MTHFR mutations: MTHFR is the gene which produces methylenetetrahydrofolate reductase. Two of the most studied genetic defects are MTHFR C677T and MTHFR A1298C. An MTHFR mutation means you need to strongly consider your dietary choices in order to stay healthy for longer. In a 2018 study, researchers found that early pregnancy loss occurred more frequently in women with the MTHFR C677T mutation than in those with the MTHFR A1298C mutation.