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
Other neural tube defects
Rheumatoid Arthritis Flares
Altered drug metabolism
Low vitamin d levels/ osteoporosis
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