Common MTHFR Mutations and General Health


What is a MTHFR Mutation? An abnormal change in gene structure/mutation, of the MTHFR gene can cause a disruption of the MTHFR enzyme’s normal function of breaking down homocysteine.

MTHFR mutations are common. The mutations can be “heterozygous” meaning they occur only on one strand or “allele” of the chromosome, or they can be “homozygous”, occurring on both alleles. The frequency of a mutation is common, occurring in about 60% of the population. MTHFR gene is directly related to hyperhomocysteinemia (high or elevated levels of homocysteine).

High levels of homocysteine can be attributed to many conditions seen in midwifery such as

  • Decrease in vitamin B-12 levels. Higher incidence of anemia
  • Complications in Pregnancy Due To Neural Tube Defects, posterior Tongue tie, lip tie
  • Anencephaly
  • Other neural tube defects
  • Spina bifida
  • Autism
  • Rheumatoid Arthritis Flares
  • Down Syndrome
  • PEs
  • Altered drug metabolism
  • Low vitamin d levels/ osteoporosis
  • Neuropsychiatric Disorders
  • Gestational Diabetes
  • Early Pregnancy Loss/ SAB (viable fetus)
  • Placental Abruption, Low Birth Weight

The most common MTHFR gene mutations are found at position 677 and/or position 1298 on the MTHFR gene.

Typical amino acids are replaced by others rendering the enzyme defective or inactive

  • MTHFR 677CC = a normal MTHFR gene
  • MTHFR 677CT = a heterozygous mutation which is one mutation
  • MTHFR 677TT = a homozygous mutation which is two mutations
  • MTHFR 1298AA = a normal MTHFR gene
  • MTHFR 1298AC = a heterozygous mutation which is one mutation
  • MTHFR 1298CC = a homozygous mutation which is two mutations
  • MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation from two different parts of the gene

MTHFR 677TT + MTHFR 1298CC= DOUBLE Compound Heterozygus


Treatment: (of course always speak with a knowledgeable provider)

May or may not include.

  • Getting you or your family members tested (blood, saliva)
  • Avoiding all forms of synthetic folic acid and un-methlyated B vitamins like cyanoB12
  • Folic acid does NOT equal Folate.
    • Folic Acid a synthetic type of Folate. Folic acid is not found in nature. Folic acid must undergo various transformations prior to utilization.
  • Being mindful of all pharmacology and vaccines
    • Antacids (deplete B12)
    • Cholestyramine (deplete cobalamin and folate absorption) – common in gallbladder issues during pregnancy!
    • Colestipol (decrease cobalamin and folate absorption)
    • Methotrexate (inhibits DHFR)
    • Nitrous Oxide (inactivates MS)
    • High Dose Niacin (depletes SAMe and limits pyridoxal kinase = active B6)
    • Theophylline (limits pyridoxal kinase = active B6)
    • Cyclosporin A (decreases renal function and increases Hcy)
    • Metformin (decreases cobalamin absorption)
    • Phenytoin (folate antagonist)
    • Carbamazepine (folate antagonist)
    • Oral Contraceptives (deplete folate)
    • Antimalarials JPC-2056, Pyrimethamine, Proguanil (inhibits DHFR)
    • Antibiotic Trimethoprim (inhibits DHFR)
    • Ethanol
    • Bactrim (inhibits DHFR)
    • Sulfasalazine (inhibits DHFR)
    • Triamterene (inhibits DHFR)
  • Involving yourself with providers who are educated on MTHFR
  • Take supplements that are methylation supportive
    • L-5-MTHF
    • Riboflavin (B2)
    • Methylcobalamin or Hydroxocobalamin
    • Zinc
    • DHA
    • Choline
    • TMG (must be avoided in pregnancy)
    • Magnesium
    • Methyl- B6
    • NAC
    • Vitamin E (natural forms only)
    • Selenium
    • Glutathione
    • Vitamin C
    • Vitamin D
    • Potassium
    • Probiotics
    • Molybdenum
    • Milk Thistle
    • *****Avoid gluten as 20% of patients with MTHFR have gluten sensitivity and gluten is inflammatory


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