Methylenetetrahydrofolate Reductase (MTHFR) - The Future is Here
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For the past ten years, genetic research continues to uncover incredible information that will have a profound affect on overall health and wellness. Studies have predicted that over 40% of the world’s population has this known genetic defect called MTHFR. The Human Genome Project continues to shed light on the MTHFR gene, which stands for Methylenetetrahydrofolate Reductase. The MTHFR gene provides instructions for making an enzyme called Methylenetetrahydrofolate Reductase. Methylenetetrahydrofolate Reductase (MTHFR) is a key regulatory enzyme in folate and homocysteine metabolism. An MTHFR mutation causes this enzyme to function at a less than optimal rate, which over time can lead to a myriad of health challenges. There are over 50 known MTHFR variants, but the two prime variants are called 677 and 1298, the numbers refer to their location on the gene. Currently, the routine lab test for MTHFR variant only reports on 677 and 1298, as these are the most studied.
The 677 variant is associated with early cardiovascular disease and stroke. The 1298 variant is associated with a variety chronic illnesses such as fibromyalgia and depression. The MTHFR is reported out as heterozygous or homozygous. Heterozygous that means one affected gene and one normal gene. The MTHFR enzyme will function approximately 55% to 70% efficiency compared to a normal MTHFR enzyme. Homozygous means two genes are affected and enzyme efficiency decreases to approximately 7% to 10% when compared to normal. Many chronic illnesses are linked to this anomaly. Research has demonstrated that 98% of autistic children have an MTHFR anomaly. Fibromyalgia, irritable bowel syndrome, migraines, and depression are all conditions associated with MTHFR anomaly."
What is a Methylenetetrahydrofolate Reductase
(MTHFR) Mutation?
Methylenetetrahydrofolate Reductase (MTHFR) is an inherited genetic variant that researchers call a polymorphism (SNP). Growing research demonstrates that up to half of all Americans may carry at least one genetic variation (C677T & A1298C) known as MTHFR. This variation prevents the body, including the brain, from being able to properly use folic acid. The MTHFR gene mutation affects a process known as methylation, which means how the body process B vitamins. B vitamins act as co-factors in key enzymes that produce and balance neurotransmitters such as serotonin. It also means that major cellular detoxification pathways are compromised.
To date, there are more than 50 known MTHFR variants, but the two prime variants are called 677 and 1298. The numbers refer to their location on the MTHFR gene. The letters refer to the amino acid position on the MTHFR. The MTHFR is reported as either heterozygous or homozygous. If your test results are “heterozygous” it means you have an affected gene and one normal gene. The MTHFR enzyme will function at approximately 55% to 70% efficiency compared to a normal MTHFR enzyme. If your test results are “homozygous” then enzyme function falls to approximately 7% to 10% of normal levels, which has a profound affect on the body. As we age, the effects of the MTHFR deficiency can become worse due to the accumulation of toxins and the cumulative effect of oxidative stress, which research shows can accelerate the aging process. Health challenges will vary based on the type of mutation identified. Currently, the routine lab test for MTHFR variant reports only on 677 and 1298 because these two mutations have been most studied. Mutation variants are described as being "heterozygous," "compound heterozygous," or "homozygous."
• C677T & C677T (Two C Copies - C677T Homozygous)
• C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
• C677T (One C Copy - C677T Heterozygous)
• A1298C & A1298C (Two A Copies - A1298C Homozygous)
• A1298C (One A Copy - A1298C Heterozygous)
Simply put, the Methylenetetrahydrofolate Reductase (MTHFR) is an enzyme whose function is to convert one form of folate (5,10 Methylenetetrahydrofolate) in to the biologically user-friendly form of folate (5- Methyltetrahydrofolate). Then, 5-Methyltetrahydrofolate converts homocysteine to methionine (another amino acid). If homocysteine is not converted to methionine, homocysteine may elevate in the plasma (blood), which may compromise overall health and wellbeing.
Think of the MTHF as the metabolic super highway in your body that breaks down folic acid properly so the body can use it to help protect and energize every cell. This super highway enables cells to get rid of toxins that could otherwise lead to a multitude of health challenges. If this super highway is disrupted or blocked for any reason (genetic inheritance, toxic overload, medications, chronic stress), the body loses its ability to make bioactive (useable) folic acid. This compromises the body's ability to effectively remove toxins, both naturally occurring and environmental exposure to certain heavy metals. In other words, people that have this genetic polymorphism have a difficult time clearing heavy metals out of their cells and corresponding body systems. An increase in toxic overload at the cellular level predisposes people with the MTHFR polymorphism to have an increased risk of breast, colon, and gastric cancers. Research is also suggesting that those who have this polymorphism may be more susceptible to problems with addiction. It has been estimated that 98% of children with Autism Spectrum Disorder have at least one of the MTHFR gene mutations. Autism rates were 1-2 in 100,000 in 1960. The rates for Autism were 1 in 88 two years ago. The rates this year are 1 in 50. It has been projected that in 7 years time, 1 in 2 children born will be on the Autism Spectrum Disorder. Research is leading some scientists to believe that this genetic polymorphism (SNP) may be linked with an increased risk of childhood leukemia, Down's Syndrome, miscarriage, infertility, dementia, Alzheimer's & Parkinson's disease, migraines, depression, bipolar disorder, schizophrenia, liver & kidney problems, cardiovascular disease, stroke, blood clots, macular degeneration, osteoporosis, thyroid dysfunction, chronic fatigue, IBS and celiac disease. An elevated homocysteine has been linked with a dysfunctional MTHF metabolic pathway.
Having an MTHFR mutation can compromise overall health and wellness because the MRHFR pathway is the main source of intracellular glutathione production. Glutathione is the body's primary antioxidant and detoxifier. People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to health challenges related to stress and they are have a more difficult time detoxifying heavy metals and other toxins. The immune system can react to dental materials as if they were infections or just toxic substances, adding to the body burden of an already toxic client. Also, as we age health challenges associated with the MTHFR mutation increase due to heavy body burden of toxins and the cumulative effect of oxidative stress, which accelerates the aging and other autoimmune processes. Research has shown, there are certain medications that should not be given or be given with extreme precaution to someone if they have an MTHFR mutation.
Who Should Be Checked For
Methylenetetrahydrofolate Reductase Deficiency
The C677T variant of the mutation is associated with early heart disease and stroke and the A1298T variant of the mutation is associated with a variety of chronic illnesses. Research has documented that those with a variant of the MTHFR mutation along with elevated homocysteine levels have and increased incidence of these dealing with these health challenges (citations for some of these conditions):
Conditions that may be associated with MTHFR gene mutations
- Nitrous Oxide Toxicity (laughing gas) - http://www.ncbi.nlm.nih.gov/pubmed/17683399
- Methotrexate Toxicity – http://www.ncbi.nlm.nih.gov/pubmed/23252949
- Mercury Toxicity - http://66.39.146.92/pdf/hyman_at.pdf
- Drug Sensitivity – Pts need to be effectively screened
- Chemical Sensitivity – Frequently seen in those with dental infections
- Thyroid Disorders
- Alzheimer’s
- Autism – 98% on Spectrum have at least one mutation
- Atherosclerosis (hardening of the arteries)
- Addictions: smoking, drugs, alcohol
- Down’s syndrome
- Frequent miscarriages
- Male and female infertility
- Pulmonary embolism
- Depression and anxiety
- Mood Disorders - http://www.ncbi.nlm.nih.gov/pubmed/23586533
- Schizophrenia
- Fibromyalgia
- Chronic Fatigue Syndrome
- Parkinson’s disease
- Irritable Bowel Syndrome
- Spina bifida
- Migraines
- Hyperhomocysteinemia
- Breast cancer
- Multiple Sclerosis
- Myocardial Infarction (Heart Attack)
- Thrombosis (blood clots)
- Cancer
- Migraines
- Osteoporotic Fractures
The MTHFR has also been linked to an increased risk of spina bifida, neural tube defects, Down's Syndrome. For women with the MTHFR mutation in their child bearing years, research has documented there is an increased incidence in complications during pregnancy such as miscarriage, stillbirth, placental abruption and preeclampsia.
Symptoms Which May be Related to Both C677T & A1298T Defect
(One C677T gene and one A1298T gene):
(Symptoms of both defects maybe be more severe and complications from blood clots more prevalent)
- Unable to clear heavy metals
- Symptoms worsen over time
- Cancer risks increase
- Increased Risk of Renal failure
- Addiction Potential (Drugs/ Videogames/Pornography)
- If both genes are defective the pathway functions at about 10-15% at best.
Symptoms associated with Heavy Metal Body Burden:
- Changes in social behavior (withdrawal)
- OCD, Depression, Bipolar, Suicide
- Schizophrenia, Aggression, Tantrums
- Chronic Fatigue & Fibromyalgia
- Poor Concentration & Memory Deficits
- Hearing Loss, Seizure, Strokes
- Peripheral Neuropathy & Parathesia
- Nausea, Diarrhea, Abdominal Pain
- Colon Cancer, Pancreatic Cancer
- Liver & Kidney Dysfunction
- Hypertension
- Tachycardia
- Pulmonary Firbrosis & Asthma
- Immune Deficiency – Low White Blood Cell (WBC)
- Hair Loss – premature graying
- Nail changes – ridges/thin nails
Medications that may aggravate MTHFR deficiency
- Glucophage - Diabetes
- Levodopa - Parkinson’s
- Nitrous Oxide - Anesthesia - If Nitrous Oxide is administered to people with MTHFR, the production of methionine is hindered or blocked. Methionine plays a crucial role in the DNA synthesis of neurotransmitters and myelin sheaths (the insulating material that covers and protects nerves). http://www.fertilethoughts.com/forums/genetic-issues/375471-mthfr-nitrous-oxide.html
Medications that Increase Homocysteine Levels
- Antiepileptic medications
- Clioquinol
- Cyclosporine
- Diuretics
- Antihypertensives
- Medications that increase gastric pH
- Erythropoietin
- Isoniazid
- Levodopa
- Lipid Lowering Meds
- Lithium
- Methotrexate
- Neuroleptic
- Nitroglycerin
- Nitrous Oxide
- Oral Antidiabetic Meds
- Oral Contraceptives
- Sulphasalizine
- Trimethroprim
Effects of Low Methylfolate
- Low Serotonin, Dopamine, Norepinephrine (why depressed for a lifetime)
- Low Glutathione, a crucial intracellular antioxidant needed for removal of toxins and to support memory function
- Low Tetrahydrobiopterine (BH4) - critical for nerve protection and neurotransmitters and for removal of NH4 (Ammonia)
Factors That May Aggravate Those with a Methylation deficiency
- Heavy body burden of heavy metals found in our water,food, medicine, vaccines & personal care products
- Poor dietary habits - Highly processed foods
- Wheat / Gluten / Dairy / Soy / Corn
- GMO’s & Herbicides (Glyphosate)
- Medications – Glucophage, Metformin, Levodopa, Birth Control, Cholesterol Meds & Sulphsalazine
- Anesthesia – Nitrous Oxide (depletes the body of Vitamin B 12)
- Other enzyme defects need to support Vitamin B6 Conversion
- Chronic Diseases – Diabetes, Obesity, Cancer
- Life Style Choices such as Tobacco and Alcohol use
Lifestyle Changes That May Help Support Methylation
- Dietary changes to include vegetables, berries, fruits (better if fresh). Berries have the active form of folic acid
- Engaging in activities such as: Mathematics, Accounting, Knitting, Playing a musical instrument
- Regular Exercise – To make more Mitochodria – You Must MOVE!
- Removal of mercury fillings (recommend using a biologic dentist if MTHFR deficient)
- Drink / Cook / Bath in filtered (purified water). If you are not sure what purifier to use, look into the pH Prescription from Senergy Medical Group. http://www.senergy.us. We need a consistent and stable pH for “Life”, when our pH levels are out of balance, life cannot be sustained. It is that simple. Water must be Alkaline to optimize health and facilitate release intracellular toxins.
- Consider Food Allergy, Intolerance and Sensitivity Screening
- AVOID GLUTEN and GMO foods and Pesticides
- AVOID artificial sugar (Splenda, Aspartame)
- AVOID Canola Oil
- Focus on rebuilding the ‘gut’ – ProBiotics, inulin, enzymes, naturally cultured foods
- Air purifier – in home, in office (Recommend Odorox from Senergy Medical Group) http://www.senergy.us
- Keep cell phone and computers away from the head. Turn off at night.
- “DO NOT SLEEP WITH TECHNOLOGY” on or near your head – research demonstrates EMF’s destroy melatonin levels in the body
- Minimize electrical gadgets in the bedroom. Use a wind up or battery powered alarm clock or get a rooster – they disrupt WBC integrity and productivity
- Avoid household cleaners, perfumes, carpet cleaners, and dry-cleaned clothing
- Avoid artificial scents
What You Can Do Right Now
- Online Testing "Without" a Doctors Order:Click Here
- Educate Yourself!
- Check your resources
- Don’t listen to Urban Legends
- Start your day off with a feeling of gratitude. When you wake up in the morning, let your eyes greet the sun. Simply open your eyes say “Thank You”
- No matter what your belief system is, your cells need the sun to function at their fullest! Before you close your eyes to sleep, simply whisper in your mind “Thank You” – let that thank you seep into everyone of your cells. Collectively they helped you to experience another day.
Resources
When nitrous oxide is no
laughing matter: nitrous oxide and pediatric anesthesia.
Genetic risk factors for
drug-induced liver injury in rheumatoid arthritis patients using low-dose
methotrexate.
THE IMPACT OF MERCURY ON HUMAN
HEALTH
AND THE ENVIRONMENT
http://66.39.146.92/pdf/hyman_at.pdf
Depression: the nutrition
connection
Patrick Holford BSc (Psych) Dip ION
Founder of the Institute for Optimum
Nutrition, Director of the Mental Health Project, Clinical Director of the
Brain Bio Centre, London, UK
Association of MTHFR gene
polymorphisms with breast cancer survival.
Modulation of the
homocysteine-betaine relationship by Methylenetetrahydrofolate Reductase
677->t genotypes and B-vitamin status in a large-scale epidemiological
study.
Association of polymorphisms in DNMT1, DNMT3A, DNMT3B, MTHFR and
MTRR genes with global DNA methylation levels and prognosis of autoimmune
thyroid disease.
The association between plasma homocysteine and
coronary heart disease is modified by the MTHFR 677C>T polymorphism
Tetrahydrobiopterin, L-Arginine and Vitamin C Act
Synergistically to Decrease Oxidative Stress, Increase Nitric Oxide and Improve
Blood Flow after Induction of Hindlimb Ischemia in the Rat
Glysphosate’s Suppression of Cytochrome P450 Enzymes
and Amino Acid Biosynthesis by the Gut Microbiome: Pathways to Modern Diseases.
Entropy 2013, 15, 1416-1463; doi:10.3390/e15041416
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Last Reviewed on 10/12/2013
