The MTHFR gene instructs the body to make an enzyme necessary to convert vitamin B9 (folic acid) into a usable form. This enzyme is also important in the process of converting homocysteine into methionine — an amino acid the body needs for growth and metabolism. Methylation, a process involving a methyl group activating an enzyme, is also associated with the MTHFR gene. Proper methylation enables the body to detoxify toxic metals, toxins, and other wastes more efficiently.
In 2003, a genetic study called the Human Genome Project was completed. The study revealed that an important gene beneficial for your health and well-being, calledthe methylenetetrahydrofolate reductase (MTHFR), was defective in a large percentage of people!
The MTHFR Gene
When it’s functioning correctly, the MTHFR gene begins a multi-step chemical breakdown process, aka methylation, which in simplified terms, is like this:
- The MTHFR gene produces the MTHFR enzyme.
- The MTHFR enzyme works with the folate vitamins (B9, folic acid), breaking it down from 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
- 5-methyltetrahydrofolate helps convert the amino acid homocysteine down to another essential amino acid, methionine, which is used by your body to make proteins, utilize antioxidants, and to assist your liver to process fats. Methionine helps with depression and even inflammation. It also helps convert estradiol (E2) into estriol (E3)!
- Methionine is converted in your liver into SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce then breakdown of your brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells.
- i.e. a proper methylation pathway like the above is going to mean you will have a better chance in eliminating toxins and heavy metals, which can reduce your risk for cancer and other health issues, and put less stress on your adrenals.
What a defective (mutated) MTHFR gene does to you
- It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, or high copper, or high lead, or high mercury….etc. High copper can also cause low ferritin, even though your iron levels look great!
- The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular disease or venous thrombosis), and related heart and BP conditions, as well as increasing your risk for dementia.
- Homocysteine is poorly converted to glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup.
- Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia (see Wiki), increased inflammation, increased free radical damage… and produce less SAM-e
- Less SAM-e can increase depression
- And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions.
- You can find yourself with high folate or high B12 i.e. your body will have problems converting inactive forms of folate and B12 to the active forms. So the inactive folate or B12 will simply build up in your serum, also inhibiting the active forms. Most serum folate tests are actually measuring folic acid, which needed to be converted to methylfolate to be used metabolically.
- The journal Molecular Psychiatry states that "Schizophrenia-like syndromes, bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene". (2006;11, 352–360)
Conditions and symptoms caused by the MTHFR gene mutations.
- Addictions: smoking, drugs, alcohol
- Down’s syndrome
- Pulmonary embolisms
- Depression in Post-Menopausal Women
- Chronic Fatigue Syndrome
- Chemical Sensitivity
- Irritable Bowel Syndrome
- Spina bifida
- Esophageal Squamous cell carcinoma
- Acute Lymphoblastic Leukemia
- Vascular Dementia
- Bipolar disorder
- Colorectal Adenoma
- Idiopathic male infertility
- Blood clots
- Rectal cancer
- Congenital Heart Defects
- Deficits in childhood cognitive development
- Gastric Cancer
- Migraines with aura
- Low HDL
- High homocysteine
- Post-menopausal breast cancer
- Oral Clefts
- Type 1 Diabetes
- Primary Closed Angle Glaucoma
- Tetralogy of Fallot
- Decreased telomere length
- Cervical dysplasia
- Multiple Sclerosis
- Essential Hypertension
- Differentiated Thyroid Carcinoma
- Prostate Cancer
- Premature Death
- Placental Abruption
- Myocardial Infarction (Heart Attack)
- Methotrexate Toxicity
- Nitrous Oxide Toxicity
- Heart Murmurs
- Tight Anal Sphincters
- Tongue Tie
- Midline Defects (many are listed above)
- Behcet’s Disease
- Ischemic Stroke in Children
- Unexplained Neurologic Disease
- Shortness of Breath
- Bladder Cancer
- Infant depression via epigenetic processes caused by maternal depression
- Increased bone fracture risk in post-menopausal women
- Potential drug toxicities: methotrexate, anti-epileptics
It is now possible to evaluate your genetic predispositions to virtually all of the most pervasive, disabling, and deadly degenerative diseases of our time, including heart disease, adult-onset diabetes, cancer, and senile dementia.
Tulsa Natural Health Clinic, we now offer genetic testing that will allow you to identify your genetic predispositions to various diseases simply using your mouth wash rinse or a blood sample, and then develop and implement a carefully targeted, customized intervention plan even before pre-disease imbalances are manifest.