Introduction:
Methylenetetrahydrofolate reductase is an enzyme that can be produced using instructions from the MTHFR gene. This enzyme helps to metabolize amino acids, which are the building blocks of proteins. Methylenetetrahydrofolate reductase is required for a chemical process involving vitamin folate (also called vitamin B9). This enzyme changes the vitamin folate's form from 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. It is the main type of folate found in blood, and it is required for the multi-step process that turns the amino acid homocysteine into the amino acid methionine. Methionine helps the body create proteins and other essential substances.
What Is an MTHFR Mutation?
MTHFR (methylenetetrahydrofolate reductase) is an enzyme that degrades the amino acid homocysteine. When people consume folic acid, MTHFR turns it into methyl-folate (the active form of folic acid). Methyl-folate is essential for methylation, which supports various body functions, including DNA synthesis, hormone metabolism, and effective detoxification. If the MTHFR gene codes for this enzyme mutates, it may lead to several health problems ranging from depression to various cancers. Each individual has two MTHFR genes, one from each parent. These genes can be affected by mutations in either one (heterozygous) or both (homozygous). MTHFR mutations often fall into two categories: C677T or A1298C. These gene mutations are quite common. An MTHFR gene mutation may alter how to metabolize and transform dietary nutrients into functional vitamins, minerals, and proteins. This genetic mutation may also impact brain function, digestion, cholesterol levels, hormone and neurotransmitter levels, and other factors.
What Does MTHFR Deficiency Mean?
MTHFR deficiency results in homocystinuria. Homocystinuria is a hereditary disease caused by inadequate folate metabolism (vitamin B9). A newborn baby with homocystinuria normally doesn't exhibit any symptoms. However, if left untreated, severe homocystinuria manifests in children as early as infancy. Therefore, newborn screening for homocystinuria is recommended to treat newborn infants early. However, homocystinuria symptoms caused by MTHFR mutations can develop later in childhood or adulthood.
What Are the Major Symptoms of an MTHFR Gene Mutation?
MTHFR mutations affect everyone differently, and symptoms might range from long-term health difficulties to hardly perceptible alterations in overall health. MTHFR mutations and several health problems have been linked by research, including-
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ADHD (Attention deficit hyperactivity disorder).
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Cardiovascular disease.
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Autoimmune disease.
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Thyroid problems.
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Chronic fatigue.
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Schizophrenia.
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Migraines.
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Colon cancer.
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Digestive problems like IBS (Irritable bowel syndrome).
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Hormonal problems like PCOS (Polycystic ovary syndrome).
Research has discovered a link between an MTHFR mutation and mental health issues like anxiety, sadness, and schizophrenia. This is because MTHFR creates an essential enzyme that transforms folate into a form that aids in producing mood-regulating neurotransmitters.
What Are the Conditions Linked With the MTHFR Gene Mutation?
MTHFR gene mutation symptoms differ from person to person and from variant to variant. The MTHFR-related conditions include-
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Ataxia is a neurological disorder that impairs balance.
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Homocysteinemia is the medical term for excessively high amounts of the amino acid homocysteine in the blood or urine.
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Microcephaly is a congenital disability in which the head is smaller than usual.
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Scoliosis is referred to as an abnormal curvature of the spine.
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Peripheral neuropathy is a neurological disorder that damages the nerves.
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Anemia is a condition where the body's supply of healthy red blood cells is inadequate.
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Cardiovascular diseases, like heart attacks, strokes, and blood clots.
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Behavior problems, including attention deficit hyperactivity disorder.
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Mental health problems, like depression, anxiety, bipolar disorder, and schizophrenia.
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Pregnancy issues and increased miscarriages.
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Cancer including Colon cancer and leukemia (blood cancer).
What Are the Risk Factors for MTHFR Mutation?
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Everyone inherits one copy of the MTHFR gene from each of their parents, resulting in two MTHFR genes. One of these genes or both of these genes may become mutated.
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An MTHFR gene mutation in a parent or close relative increases a person's chances of inheriting the same variant.
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An increased risk of homozygous MTHFR mutation exists in individuals with two affected parents.
How Is an MTHFR Mutation Diagnosed?
A clinician can identify an MTHFR variant by looking at a patient's medical history, considering their present symptoms, and conducting a physical exam. In addition, the doctor might advise taking a blood sample to assess the patient's homocysteine levels.
Although genetic testing can detect an MTHFR gene mutation, certain organizations advise against screening for common MTHFR gene variants regarding cardiovascular risk. This is because common gene mutations alone, in the absence of accompanying symptoms, are not considered significant risk factors for heart disease. In addition, the results of testing have minimal effect on medical treatment.
How to Treat the MTHFR Gene Mutation?
Patients with extremely high homocysteine levels usually need treatment. Treatment for MTHFR gene mutations involves the following-
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Modifying a person's lifestyle, such as a healthy diet, quitting smoking, and maintaining physical fitness.
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Doctors usually recommend vitamin B supplements such as folic acid and multivitamins to treat MTHFR mutation.
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The doctor may recommend supplementation to address deficiencies and drugs or treatments to address the individual health problem.
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Antidepressants may be recommended for any condition induced by the MTHFR mutation.
What Are the Natural Treatments for MTHFR Mutation Symptoms?
Having the MTHFR mutation gives a chance to modify the food and way of life to increase methylation, control symptoms, and enhance overall health. Some natural treatments for MTHFR mutation symptoms include the following-
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Consume More Folate and Vitamin B12 - Consuming more folate in the diet may help with methylation. Dark leafy greens, avocados, and lentils are some of the best whole-food sources of B vitamin folate.
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Support Detoxification - Maintaining the body's natural elimination pathways is essential because low methylation affects detoxification.
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Minimize Alcohol Intake - Alcohol use can worsen symptoms by blocking DNA methylation and raising the liver's detoxifying demands. Limiting alcohol intake may help those with MTHFR genetic mutations, whose methylation processes are already impaired, experience less interference.
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Manage Stress With Lifestyle Changes - Those with MTHFR genetic variants are more prone to neurotransmitter imbalance, which can influence mood and irritability, particularly when stressed. MTHFR mutant symptoms can be made worse by high stress levels.
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Heal Any Underlying Digestive Issues - Healing and maintaining the gut is important to boosting methylation and returning the body to optimal overall health.
What Is the Prognosis of MTHFR Gene Mutations?
The effects of MTHFR mutations vary from person to person. For example, homocysteine in a person's blood or urine may be higher than usual if they carry one or more MTHFR mutations.
More research is required to identify the precise impact of these gene changes on health, even though recent research has found links between MTHFR variations and several health conditions.
People might consult a doctor about the benefits and disadvantages of genetic testing. However, most health organizations do not suggest genetic testing until a person is experiencing severe health impacts.
Conclusion:
The MTHFR mutation may or may not have an impact on health. More research is required to identify the true impact of the variations. Many reputable health organizations advise against testing for this mutation, especially if there are no other medical indications. It is important to discuss the benefits and risks of testing and any other concerns with the doctor. Therefore, it is advised to maintain a nutritious diet, regular exercise, and other healthy lifestyle practices to maintain general well-being.
