Methylation, MTHFR & SNPs
The MTHFR genetic defect (methyl tetra hydro folate reductase deficiency) is a genetic mutation present in 40-60% of the population. There are several B vitamins that require activation before they are useful to the body. People with this defect are missing “methyl groups” that assist in converting these B vitamins, including folic acid and vitamin B 12, into a bioavailable form that the body can use. In addition, people with this genetic defect often do not clear toxins from their bodies as efficiently.
So, the good news here is that this IS treatable. Once a repletion protocol is started, most people usually notice an overall shift in how they feel. Sometimes this can be subtle, though for many it is quite profound. In addition, there can be little idiosyncratic “symptoms” that nobody really knows what to do with. People often notice a shift in these symptoms as well. Some people experience a period of “detox” once they start getting these vitamins in a bioavailable form. Many people call this “the missing link” they have been searching for to find the root cause of ongoing health issues.
There are many variants of the gene, with the C677T and A1298C being the most common found with available blood testing. Using a repletion protocol can support the enzyme deficiency and assist metabolic pathways.
Possible symptoms of the gene defect:
C677T prominent features:
- Increase risk of stroke and heart disease
- Increased DVT (blood clots)
- Elevated homocysteine
- Peripheral neuropathy
- Pregnancy complications with increased incidence of miscarriage,
stillbirth, pre-eclampsia, placental abruption
- Neural tube defects (cleft lip and palate, spinal bifida)
A1298C prominent features:
- Depression and anxiety
- Bipolar disorder
- Irritable bowel syndrome
- Chronic fatigue
- Nerve pain
- Multiple Sclerosis
Compound Heterozygous Features *one 677 and one 1298 gene*
- Symptoms of both
- Symptoms usually are more severe
- Blood clots with “clotting events” are more prevalent
Symptoms related to both:
- Symptoms tend to worsen over time
- Addiction potential is increased often with OCD type behaviors
- don’t clear toxins or heavy metals efficiently; chemical sensitivity which can contribute to neurological symptoms, mood disorders, headaches, fatigue, insomnia, immune and autoimmune issues, allergies, and kidney damage
- Increased cancer risk (acute lymphoblastic leukemia, esophageal squamous cell carcinoma, colorectal adenoma, meningioma, glioma, gastric cancers, differentiated thyroid carcinoma, prostate cancer, postmenopausal breast cancer).
- Potential anesthesia and medication toxicity->nitrous oxide, methotrexate and anti-epileptics
I have been working with methylation and the MTHFR mutation since 2009, supporting my patients on their path to optimal wellness. I have seen remarkable and often dramatic improvement in chronic conditions when following a protocol for repletion, often proving to be the “missing link” for improved overall health!