Asked by: Randa Isabel
science genetics

How common is Mthfr mutation?

Last Updated: 29th April, 2020

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Methylenetetrahydrofolate reductase, or MTHFR,isan enzyme that breaks down the amino acids homocysteine andfolate.There are two common types, or variants, ofMTHFRmutation: C677T and A1298C. Mutations inMTHFRgenes occur in approximately 25% of people of Hispanicdescent and10–15% of people of European descent.

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Simply so, what percentage of the population has the Mthfr mutation?

MTHFR variants are found inpeopleworldwide. In some ethnicities, the chance tohave at leastone MTHFR variant is as high as50%. Between 10%-15%of the Caucasian population and morethan 25% of the Latinopopulation have variants in bothcopies of the MTHFRgene.

Also, are you born with Mthfr mutation? Every human body has thegene5-methyltetrahydrofolate. It's also known asMTHFR. Duringpregnancy, women who test positive for amutated MTHFR genemay have a higher risk for miscarriages,preeclampsia, or a babyborn with birth defects, such asspina bifida.

Also know, how common is Mthfr c677t mutation?

Patients who are homozygous for the MTHFRC677Tmutation may develop hyperhomocysteinemia, especiallywithconcurrent deficiency of vitamins B12, B6 (pyridoxine), orfolicacid. This mutation is quite common, with acarrierfrequency of 31% to 39% (homozygote frequency 9%-17%) amongthewhite North American population.

Does everyone have Mthfr?

Everyone has two copies of the MTHFRgene,one copy from each parent. If you've been told you haveanMTHFR variant, it means you have a differenceineither one or both copies of the MTHFR gene. The twomostcommon MTHFR variants are C677T and A1298C. However,thereare other variants that have also beenfound.

Related Question Answers

Iray Molbiedro

Professional

What foods to avoid if you have Mthfr?

Avoid processed foods thathavesynthetic folic acid added to them. Get yourfolate fromnatural sources, including cooked, dark leafy greenslike spinach,kale, bok choy, and Swiss chard. The BulletproofDietRoadmap is a valuable reference for the bestgreens.

Raheela Schwaldt

Professional

What happens if I have Mthfr?

More than likely, unless you have problemsorhave testing done, you'll never become aware ofyourMTHFR mutation status. Conditions that havebeenproposed to be associated with MTHFR include:cardiovascularand thromboembolic diseases (specifically bloodclots, stroke,embolism, and heart attacks) depression.

Anfisa Hirschwald

Professional

What problems can Mthfr cause?

MTHFR mutations also increase the risk ofseveralphysical health problems, including but not limitedtocardiovascular disease and stroke, recurrentearlymiscarriage, migraine with aura, osteoporosis, andsomecancers.

Cindi Vizueta

Explainer

What is the treatment for Mthfr?

Avoid folic acid blocking drugs such as birth controlorMethotrexate. Avoid drugs which increase homocysteine suchasNitrous Oxide (most used in dentistry) Avoid antacids as theyblockabsorption of vitamin B12 and other nutrients. Beginunderstandingwhich of your symptoms may be related to theC677TMTHFR mutation.

Shaima Seubert

Explainer

How is Mthfr treated?

How do doctors treat people withreducedMTHFR activity? There are two possibletreatmentoptions for people with reduced MTHFRactivity; both areoral supplements: L-methylfolate: Studies haveshown that usingL-methylfolatealone14 orin addition toanantidepressant46 canhelpreduce depressive symptoms.

Abdeloihed

Explainer

Can Mthfr cause anxiety?

MTHFR mutations, for which at least 24knowngenetic polymorphisms have been identified, are associatedwithmetabolic dysfunction. They play a suspected role inseveralphysiologic symptoms—including anxiety. Themostcommon MTHFR mutation is the MTHFRC677Tmutation.

Ilarion Schmidmayer

Pundit

How is Mthfr diagnosed?

The methylenetetrahydrofolate reductase(MTHFR)mutation test may be used to detect two relativelycommon mutationsin the MTHFR gene that are associated withelevated levelsof homocysteine in the blood. MTHFR C677T andA1298C genemutations are the most common and the ones that aretypicallytested.

Amando Zorg

Pundit

How do you treat Mthfr naturally?

Tips to improve detoxification include:
  1. Eat a high fiber diet (30-50 grams per day).
  2. Eat an anti-inflammatory diet filled with vegetables,goodquality protein, healthy fats, and fruits.
  3. Move and sweat regularly, at least 4-5x per week,includingregular sauna treatments and Epsom salt baths.

Titi Hornig

Pundit

What are the symptoms of high homocysteine levels?

Elevated homocysteine symptoms
  • pale skin.
  • weakness.
  • fatigue.
  • tingling sensations (like pins and needles) in the hands,arms,legs, or feet.
  • dizziness.
  • mouth sores.
  • mood changes.

Ed Hofschroer

Pundit

Is Mthfr a blood disorder?

There are many different mutations in theMTHFRgene. Some individuals with a MTHFR mutationhave elevatedhomocysteine levels. Elevated homocysteine levels maycauseirritation of the blood vessels and are considered ariskfactor for blood clots. Thus, the MTHFR mutationbyitself is not a clotting disorder.

Yrene Illinza

Pundit

What chromosome is Mthfr on?

The enzyme 5,10-methylenetetrahydrofolatereductase(MTHFR) is involved in folate metabolism. TheMTHFRgene is located on chromosome 1 (1p36.3), andtwo commonalleles, the C677T (thermolabile) allele and the A1298Callele,have been described.

Audria Quille

Teacher

What does Mthfr deficiency mean?

Homocystinuria due to MTHFR deficiency isagenetic condition that results from poor metabolism of folate(alsocalled vitamin B9), due to a lack of working enzymecalledMTHFR. Very common gene variants (C677T andA1298C)can cause some decrease in enzymefunction.

Nara Glubokovsky

Teacher

What does the Mthfr gene mutation cause?

Methylenetetrahydrofolate reductase (MTHFR) isanenzyme produced by the MTHFR gene. An MTHFRmutationis simply an error in the MTHFR gene thatcauses itto malfunction. If this happens, the genemay be less ableto break down homocysteine, causing anaccumulation of theenzyme in the blood.

Jacqualine Weisrock

Teacher

Does ancestry DNA test for Mthfr?

Most ancestry DNA providers include theprominentMTHFR mutations in their raw data. You canorder a23andme ancestry test, to learn a lot more about yourhealththan just ancestry, including yourMTHFRstatus.

Bayan Dubnyakov

Teacher

How do I lower my homocysteine levels?

Several dietary and lifestyle changes can helpreducechronic inflammation:
  1. Avoid methionine-rich foods like red meat anddairyproducts.
  2. Exercise, as patients in a cardiac rehabilitation programshoweda reduction in homocysteine from exercise alone.
  3. Decrease or eliminate alcohol and smoking.

Cristina Plumacher

Reviewer

What does homozygous c677t mean?

If a mutation occurs in just one copy of the genethenthat individual is considered heterozygous. However, ifbothcopies of a gene are mutated then that individualisconsidered homozygous. Two copies of the MTHFRC677Tmutation can result in the following symptoms:Decreasedenzyme activity levels.

Maty Mayor

Reviewer

What is methylation in the body?

Methylation is a biochemical process involvingthetransfer of an active methyl group between molecules.Impairedmethylation can lead to depression, anxiety,histamineintolerance, increased risk of cancer, hormone imbalance,poordetox capacity, infertility, birth defects, fatigue, andlowenergy.

Ichrak Verhouven

Reviewer

Does Mthfr cause stillbirth?

Blood Clotting caused byMTHFR
It can occur early in the pregnancy when the fetusissuper vulnerable causing repeated miscarriages or laterinthe pregnancy when a clot forms in the placenta or umbilicalcordand causes stillbirth.

Sobeida Olderdissen

Reviewer

Can low folic acid cause miscarriages?

A few studies have suggested that being deficientinfolic acid is associated with a higher risk ofearlymiscarriage. One 2002 study by Swedish researchersfoundthat women with low folate levels had asignificantlyincreased risk of having a miscarriage affectedbychromosomal abnormalities.