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 naturopathic medicine, such as:
- Decreased 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
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
- Education around 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 (they 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 active B6)
- Theophylline (limits active B6)
- Cyclosporin A (decreases renal function)
- Metformin (decreases B12 absorption)
- Phenytoin (folate antagonist)
- Carbamazepine (folate antagonist)
- Oral Contraceptives (deplete folate)
- Antibiotic Trimethoprim
- Ethanol
- Avoiding Bactrim, Sulfasalazine, Triamterene
- Involving yourself with providers who are educated on MTHFR
- Take supplements that are methylation supportive such as Riboflavin (B2), Methylcobalamin or Hydroxocobalamin, Zinc, DHA, Choline, Magnesium, Methyl- B6, NAC, Glutathione, Vitamin C, Vitamin D, Probiotics, Molybdenum
Avoid gluten as 20% of patients with MTHFR have gluten sensitivity and gluten is inflammatory.
Typical amino acids are replaced by others rendering the enzyme defective or inactive.
Dr. Kendra Becker is one truly integrated physician practicing in for 10 years; She is Connecticut’s only “4A Specialist” (asthma, autism, allergies, atopy/eczema). She holds an ND degree from University of Bridgeport and MS, APRN from Sacred Heart University. She is board certified in both areas. Her specialties include MTHFR, fertility and treatment of “the 4As” (asthma, autism, allergies, atopy/eczema). Dr. Becker focuses on primarily treating the pediatric population and their parents as well as using her own “Pre-Conception Health Care” protocol to improve pregnancy outcomes among her patient population. Dr. Becker is a member of Both PEDANP and ANCC, as well as holding certifications for Nutrigenomics, Epigenetics and Methylation. Dr. Becker is adjunct Faculty Yale School of Nursing. She was recently chosen as one of Connecticut’s “Top Naturopathic Doctors”.
Dr. Becker lectures on various topics throughout the nation, including elimination diets, vaccine education, methylation and fertility. She has made regular appearances on both local and national TV programs, featured as a specialist and expert in the areas of holistic medicine. Dr. Becker writes for an international publication and Dr. Becker is published her first book this fall, ”A Delicious Way to Heal the Gut” a healthy cook book to help families jump start special diets.