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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

  1. Decrease in vitamin B-12 levels. Higher incidence of anemia

  2. Complications in Pregnancy Due To Neural Tube Defects, posterior Tongue tie, lip tie

  3. Anencephaly

  4. Other neural tube defects

  5. Spina bifida

  6. Autism

  7. Rheumatoid Arthritis Flares

  8. Down Syndrome

  9. PEs

  10. Altered drug metabolism

  11. Low vitamin d levels/ osteoporosis

  12. Neuropsychiatric Disorders

  13. Gestational Diabetes

  14. Early Pregnancy Loss/ SAB (viable fetus)

  15. 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

  1. MTHFR 677CC = a normal MTHFR gene

  2. MTHFR 677CT = a heterozygous mutation which is one mutation