MTHFR C677T/A1298C
What is the MTHFR GENE?
The MTHFR gene, short for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase) gene, is located on the short arm of chromosome 1 (1p36.3) and two common alleles, the C677T allele and the A1298C allele, have been described. MTHFR C677T mutations are tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages, and neural tube defects. Some studies also suggest that people with two C677T gene mutations have about a 16 percent higher chance of developing coronary heart disease. MTHFR A1298C mutations are tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia, and mood-related problems. This is especially true if you’ve inherited the mutation from both parents or have both forms of MTHFR mutations. A heterozygous MTHFR mutation (from one parent) or a homozygous mutation (from both parents) are possible, though individuals with homozygous mutations tend to have more severe symptoms and health problems due to having lower methylation and enzyme production. The signs and symptoms vary depending on the classification of MTHFR mutation.
WHY IS A MTHFR POLYMORPHISM POTENTIALLY PROBLEMATIC?
MTHFR normally plays a critical role in many important processes throughout the body. It is the gene responsible for facilitating methylation, repairing DNA, protein formation, homocysteine conversion, folate processing, and toxin detoxification. When there is a MTHFR polymorphism, the following issues can occur:
• Methylation, a metabolic process that switches genes on and off and repairs DNA, is diminished. Methylation also affects nutrient conversions through enzyme interactions.
• Detoxification is decreased because methylation is diminished, which normally helps to eliminate heavy metals and toxins via the gastrointestinal tract.
• Production of various neurotransmitters and hormones, including serotonin, is diminished. Deficiencies in the production in these neurotransmitters affect mood, motivation, sleep, sex drive, appetite, and digestive function. So, abnormalities in these neurotransmitters or hormones can be connected to conditions like ADHD, depression, anxiety, IBS, and insomnia.
• Amino acids can not be formed together to make proteins.
• Homocysteine is less likely to be converted into methionine, which normally balances cholesterol and maintains cardiovascular health.
• Folate (also called vitamin B9) is not properly processed, normally conducted by converting one form of the methylenetetrahydrofolate molecule into another active form, called 5-methyltetrahydrofolate (or 5-MTFH for short), affecting everything from cognitive health to digestion. This is especially critical during pregnancy.
WHAT ARE THE SIGNS OF A MTHFR POLYMORPHISM?
Folate (vitamin B9) deficiency is an obvious sign of MTHFR gene mutation, though it does not always appear as the first sign. Folate or folic acid deficiency symptoms include anemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, poor memory, lack of energy, poor appetite, stomach pains, depression. Furthermore, a folate deficiency due to this genetic mutation will affect all B vitamin levels and symptoms may present differently depending on the MTHFR gene mutation. Common symptoms of B vitamin deficiencies include: Acne, anemia, anxiety, apathy, bleeding or tender gums, burning feet or tender heels, burning or gritty eyes, cataracts, constipation, cracked lips, depression, diarrhea, dry skin, dull or oily hair, eczema or dermatitis, exhaustion after light exercise, eye pains, flaky skin, headaches, inability to exercise, infrequent dream recall, insomnia, irritability, lack of energy, migraines, muscle cramps, muscle tremors, nausea, nervousness, oversensitive mouth to heat or cold, pale skin, poor appetite, poor concentration, poor hair condition, poor memory, prematurely greying hair, prickly legs, rapid heart beat, sensitivity to bright lights, sore tongue, split nails, stomach pains, teeth grinding, tender muscles, tender or sore muscles, tension, tingling hands, vomiting, or water retention.
Along with B vitamins, MTHFR mutations can affect other nutrients as well. Symptoms of choline deficiency include developmental abnormalities in newborn babies, high blood cholesterol and fat, fatty liver, nerve degeneration, high blood pressure, atherosclerosis, senile dementia, and reduced resistance to infection or lowered immunity. Inositol deficiency symptoms include irritability, insomnia, nervousness, hyper-excitability, reduction in nerve growth and regeneration, and low HDL levels with an increased risk of cardiovascular disease. Finally, MTHFR mutations can lead to amino acid imbalances. Levels of methionine can be high or low in individuals with this gene disorder but it is one of the most important amino acids affected by the gene since methionine is involved in methylation and maintaining the homocysteine cycle. Symptoms of methionine imbalance can vary greatly, though some of the more concerning symptoms include cardiovascular disease, heart attack, stroke, inability to detoxify, inability to process and or use other important amino acids, lowered immunity, or chronic allergies. Glycine deficiency symptoms include low energy or fatigue, blood sugar imbalances, hypoglycemia, anemia, chronic fatigue syndrome, poor digestion, seizures, manic bipolar depression, cancer, mental health disorders, uric acid toxicity, or phenolic and bonzonic acid toxicity.
HOW TO FIND OUT IF YOU HAVE A MTHFR POLYMORPHISM
If you believe that you may have an MTHFR polymorphism, discuss it with your qualified health practitioner. Your clinical nutritionist can provide you with a genetic test and an individualized management plan. MTHFR gene testing can determine which form(s) of MTHFR gene mutations you may have in order to personalize the diet, lifestyle, and supplementation protocol that will be beneficial for your individual conditions. It is important to note that you should not start any diet or supplementation protocol without discussing any changes with your practitioner.