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Doctor insights on: Mthfr Mutation

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Does FADH2 play the same role in MTHFR mutated forms as it does in the otherwise normal form, and could MTHFR mutation alone cause FADH2 depletion?

Does FADH2 play the same role in MTHFR mutated  forms as it does in the otherwise normal form, and could MTHFR mutation alone cause FADH2 depletion?

Homocysteine: The majority of population has at least a single MTHFR mutation and around 40% have a double mutation (either heterozygous (one of each) A1298C & C677T, homozygous (two) C677T or homozygous A1298C). The MTHFR enzyme metabolizes folic acid into 5-MTHF, needed to combine with homocysteine. What is often seen with MTHFR mutations are: elevated homocysteine levels and defective methylation. ...Read more

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Who can test me for vitamin levels and where can I get 5-mthf, also are there any doctors who specialize in mthfr mutation in san antonio texas?

MTHFR Gene mutation: For more information on methy-folate supplementation and testing for mthfr gene mutations, read this... http://doccarnahan.blogspot.com/2013/10/whats-big-deal-about-methylation-update.html. ...Read more

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Taking Clexane from week 8 till now 29 due to mthfr mutation, is it okay to have normal delivery or i have to do cesarean & when can i stop inj it?

Taking Clexane from week 8 till now 29 due to mthfr mutation, is it okay to have normal delivery or i have to do cesarean & when can i stop inj it?

Doctors instructions: Clarify with your Obgyn the treatment plan for your pregnancy. It is not typical to deliver via c section simply because of a MTHFR mutation. The doctor may want you to continue the medication until delivery and even after. They may ask you to stop it 24 hrs before delivery if regional anesthesia is planned. ...Read more

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I am a descendant of DES, and have a homozygous MTHFR mutation. Where can I find an OB-GYN who is familiar with both?

I am a descendant of DES, and have a homozygous MTHFR mutation.  Where can I find an OB-GYN who is familiar with both?

Your address: Ind icates that you live in New York City and any of the OB-GYN departments at the many University/Medical Schools will have a SPECIALIST in the DES descendant group of women. Do NOT be afraid to ask YOUR GYN for a referral He/She will know just who you should see and should NOT feel offended at your desire to have "super -Specialist"!!! Good Luck/Hope this is helpful Dr Z ...Read more

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How are mthfr mutations and chiari malformation related? Should i get tested if I have chiari? (and high B6 levels, for no good reason)

Forgive my frankness: One lab is promoting testing for mthfr mutations despite the fact that they merely identify folks who may be at slightly extra risk for this-and-that and who need to be extra-sure they get enough nutrients. A majority of people carry at least one 'mutant mghfr' and this is generating all kinds of scares. No relatioship to your chiari. ...Read more

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Dr. Chevies newman, does mthfr mutation prevent body from processing folic acid or doing it well? I hear it takes time to build up folate. As i didn't start that early, I am worried about neural tube defects.

Dr. Chevies newman, does mthfr mutation prevent body from processing folic acid or doing it well? I hear it takes time to build up folate. As i didn't start that early, I am worried about neural tube defects.

He's right but...: Since you are heterozygous you will be able to convert some Folic Acid to the active l-5-mthfr form. Also, hopefully your diet had adequate folate (folic acid) from green leafy veggies etc. Because 30% of people have folate (folic acid) metabolism issues i advise women to take prenatals that have the l-5-mthf form. If worried you can get imagining studies to check for neural tube defects. ...Read more

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I have mthfr 2 mutations, i had 3 miscarriages one 2nd trimeste loss chances of this causing them?

MTHFR SNPs: Yes, methylation problems can definitely cause miscarriages and birth defects. Knowledge is powerful, though. Find a provider who understands how to evaluate and treat this. Have a look at www.mthfr.net there is a list of providers with extra training on MTHFR. ...Read more

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Could mthfr c667t mutation be the cause of elevated mcv, mch, and b12?

Could mthfr c667t mutation be the cause of elevated mcv, mch, and b12?

No: Look for another cause. 30% of white people have one dose and 5% have two. There are some correlations found by some groups but most people in the pathology community do not believe this is sufficient to explain clinical illness. I also see that you are on Methotrexate which can raise mcv, and an elevated B12 means nothing. ...Read more

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Does having the mthfr gene mutation put me at risk for life threatning illness more than the average person? Is there anything i can do 2 help

Does having the mthfr gene mutation put me at risk for life threatning illness more than the average person? Is there anything i can do 2 help

Depends: Depends on which mutation you have, and if you have one or two mutations. Having two copies of the 677 mutation is a bigger deal than having one copy of the 1298. The 677 and 1298 mutations are each treated differently. But yes, there is help for them. ...Read more

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Does the MTHFR genetic mutation cause OCD? if you were treat the mutation, would the ocd improve? any articles or references about ocd and MTHFR?

Does the MTHFR genetic mutation cause OCD? if you were treat the mutation, would the ocd improve? any articles or references about ocd and MTHFR?

OCD and other: psychological issues have been found to be linked to the MTHFR mutation. the Spectracell lab in Texas has a test for this and some info on their website. The very best to you. Lots of room for hope. ...Read more

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What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it or feel it is a problem

What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it  or feel it  is a problem

MTHFR Gene mutation: If you'd like to do more reading on the health effects of mthfr gene mutation, here's a great article ... http://doccarnahan.blogspot.com/2013/10/whats-big-deal-about-methylation-update.html. ...Read more

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My MTHFR gene mutation test says 'not detected' but the note below it says 'this assay detects the mutation C677T in MTHFR' . Does it mean I have it ?

My MTHFR gene mutation test says 'not detected' but the note below it says 'this assay detects the mutation C677T in MTHFR' . Does it mean I have it ?

MTHFR mutations: MTHFR is the gene which produces methylenetetrahydrofolate reductase. Over 50 known mutations in this gene cause reduced function of the enzyme. The most common mutation causing homocystinuria is the C677T mutation, which among other problems increases the risk of stroke. I can't tell how many mutations your particular test could detect, but you do not have the C677T mutation. ...Read more

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Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens. I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation. There is a lot of conflicting inform

Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens.  I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation.  There is a lot of conflicting inform

Sorry I: cannot offer more help than this: The "story" is still "OUT" and this gene abnormality has now been blamed for just about EVERYTHING from early heart disease to frequent miscarriages! I would be VERY CAUTIOUS about accepting ANY ADVICE particularly the INTERNET about this "condition" If this is a MAJOR issue consult with a Board Certified GENETICIST! My Opinion only...hope it helps..Good Luck Z ...Read more

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I am pregnant and have a mthfr gene mutation and i recently read that folic acid is not good for me or the baby and I should take folate instead?

I am pregnant and have a mthfr gene mutation and i recently read that folic acid is not good for me or the baby and I should take folate instead?

MTHFR: If you've been tested for mthfr mutations and do have one, then your body may not do well with Folic Acid at all. You would benefit more from methylfolate since it bypasses the metabolic step that your system has trouble with. You need a functional medicine or integrative medicine doc who really knows mutations in this enzyme ; can advise you plus collaborate with your ob-gyn doc too. ...Read more

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I am hetero for the mthfr genetic mutation c677t. Everything i've read says I should be gluten/folic acid/dairy free. Advice regarding this mutation?

I am hetero for the mthfr genetic mutation c677t. Everything i've read says I should be gluten/folic acid/dairy free. Advice regarding this mutation?

I can't agree: ~1 person in 4 is like you. The pathology community is divided over MTHFR testing. I'm undecided. A majority of people who take the test will be told they have an 'abnormal' result and are therefore in need of special supplements which they may then be offered by the folks who have done the test. Talk with your own physician and if necessary an authentic genetic counsellor. ...Read more

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I am 5 weeks pregnant and am heterozygous for mthfr 677ct mutation. I had only stared prenatals (prena 1) two weeks before fertization. I am worried whether my baby will have neural tube defects!

Get more folate (folic acid): Ideally women should be utilizing folate (folic acid) for three months prior to pregnancy but in the real world that rarely happens. The chances of your baby having a problem are not high and there is not much impact you can have at this point. Due to your genetic mutation you should be using a higher dose folate (folic acid)/folinic on a regular basis. I would also use sublingual methyl B12 1 mg daily. ...Read more

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Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...Read more