How can a MTHFR gene mutation affect your health?
MTHFR gene mutations commonly underlie common health problems because the active form of folate is so important in how your biochemistry functions.
With a few simple changes and some professional advice you may be able to alleviate some symptoms laid out in this article. MTHFR is often overlooked. New research is showing how important it really is. You may be shocked to find out how many symptoms are linked to MTHFR gene mutations.
MTHFR gene mutations may lead to less methylation in your body. Less methylation means that a variety of complex biochemical changes can change over time, leading to health problems. Since everyone is unique, (for example: family history, lifestyle, diet etc..) symptoms arising from MTHFR mutations vary from person to person.
We can’t change the genes we have but we can change the way they act and this is the process of epigenetics. So let’s say you are born with an MTHFR gene mutation, but at the time that your mother was pregnant with you she was very stressed, working hard, not eating very well, then you could expect that the MTHFR gene most likely ‘expressed’ itself. This means that biochemical shifts started to happen due to less folate being produced and a higher demand for methyls (active folate) were needed by the body to cope with the stress. If you have a homozygous mutation then your enzyme really only works at 25% capacity and this makes it even harder for you to catch up.
Symptoms Linked To MTHFR Gene Mutations
Cardiovascular Conditions
- MTHFR mutations may be adding fuel to the fire of cardiovascular problems. When active folate is low, we tend to see an elevation in homocysteine and this can mean you are more susceptible to having cardiovascular issues. The following is a list of cardiovascular conditions where MTHFR combined with an elevated homocysteine could be playing a role:
- High blood pressure
- Stroke
- Heart attack
- Deep vein thrombosis
Multiple Miscarriages and trouble falling pregnant
- Pregnancy is one of the most demanding biological process on folate. You have no doubt heard that folate is the key nutrient for a successful pregnancy and this is because we need it for good quality DNA. This is the reason that there is a high prevalence of multiple miscarriage and failed IVF in my fertility population. So ensuring your active folate production is in good supply during preconception and pregnancy is critical for a healthy and successful pregnancy.
- Problems arising from MTHFR mutation during pregnancy include:
- Miscarriage
- Down syndrome
- Neural tube defects (Cleft lip/palate and spina bifida)
- Elevated blood pressure
- Anencephaly, encephalocele
Oestrogen Dominance
- Methylation plays a crucial role in the production/regulation of hormones within the human body. The key enzyme that gets rid of toxic estrogens needs active folate (methyls), so those in short supply can be more susceptible to having more toxic estrogen in their system. In some cases, problems with methylation are the underlying factor behind Oestrogen dominance, which can produce the following symptoms:
- Fibrocystic ovaries and breasts
- Tenderness and swelling of breasts
- Mood swings
- Irregular menstruation cycle
- Food cravings
- Thyroid dysfunction
- Heavy periods
- Painful Periods
- Endometriosis (overgrowth of tissue lining the uterus, this is often painful)
- Fibroids
- Breast cancer
- Prostate Cancer
Mental Health Problems
- Mental health problems can be influenced by imbalances in hormones and neurotransmitters caused by a lack of methylation. Remember that SAMe is essential for our brain chemicals and your active folate helps you build SAMe levels. SAMe is the key ingredient we need to create all our brain chemicals like dopamine, serotonin, epinephrine, norepinephrine. I find that a huge percentage of my MTHFR patients have or do experience high levels of anxiety and depression at some time in their life. I think they are also much more susceptible to stress than the average person and so it’s a Catch 22 situation. You need the methyls (active folate) to be less stressed but because of the MTHFR gene mutation you haven’t got the capacity to make them. Look at the following symptoms and see if you have any of these:
- Depression
- Anxiety
- Bipolar
- ADD/ADHD
- Social phobias
- Lack of motivation
- Lack of finishing products that you start
- Food cravings
- Depression especially in winter months
- Feeling of sadness
- Not wanting to mix with your friends or socialise
- Brain fog (difficulty concentrating)
Autoimmune Problems
- Autoimmunity is a big problem in society now. There are many contributing factors, however having a lack of methylation affects our immune system. If we can improve methylation then autoimmunity will improve. I often believe that it’s the lack of utilization of folate that is the trigger. Obviously we need to look at other genes that will work with MTHFR to affect immune function like HLA, Vitamin D, Vitamin A, Celiac genes etc.
- We have to also address gut, infections, bacteria and other things that affect us. So if you have any of the following or any autoimmune conditions please check for MTHFR mutations https://www.mthfrsupport.com.au/product-category/test-kits/
- Fibromyalgia
- Hashimotos thyroiditis
- Rheumatoid arthritis
- Crohns Disease
- Ulcerative Colitis
- Graves Disease
- Sjogrens syndrome
- Scleroderma
- SLE
- Celiac Disease
- Type 1 Diabetes
- Psoriasis
- Lupus
General signs of MTHFR Mutations
- Chronic inflammation
- Chronic fatigue
- Dizziness
- Hives
- Allergies
- Eczema
- Asthma
- Heightened reaction to allergens
- Elevated liver enzymes
- Increased red blood cell folate
- Decreased immune function
- High Homocysteine levels
- Low B12
Common Medications That Reduce Methylation
Common medications may be reducing your ability to methylate by lowering B12 or overall folate levels. If less B12 and/or folate is available to use in your body, symptoms may become worse. Medications that could be interfering with your B12 and folate levels include:
Medications to Watch out For:
- Antacids
- Cholestyramine
- Nitrous oxide - your dentist will often use this. It's known as laughing gas.
- Methotrexate
- Niacin (at high doses) - because Niacin uses methyl groups in its metabolism
- Theophylline
- Cyclosporin
- Metformin
- Phenytoin
- Bactrim - an antibiotic
- Sulfasalazine
- Triamterene
- Trimethoprim
- Ethanol
- Oral Contraceptive Pill
- Antimalarials
Conditions of Hypomethylation (Under Methylation)
MTHFR mutations affect methylation. Sometimes you might have low methylation and sometimes you might not be able to use the methyls that you do create. (I call this underutilization). Below you can find a list of some of the conditions that the research suggests is assocated with a lack of methylation. (organized categorically)
General Physiological Malfunctions
- Allergic conditions
- Ageing
- Alzheimer’s Disease
- Asthma
- Autoimmune Disease
- Cancer
- Chronic degenerative diseases
- Cardiovascular disease
- Chronic fatigue
- Diabetes
- Poor detoxification
- Fibromyalgia
- Headaches
- Joint pain, stiffness, and swelling
- Muscle pain
- Low neurotransmitter levels
- Obesity
- Increased pain
- Thyroid dysfunction
Mental Health
- ADD/ADHD
- Addictive behaviors
- Anorexia
- Anxiety
- Bipolar
- Bulimia
- Delusions
- Depression
- Autism
- Insomnia
- Obsessive compulsive disorder (OCD)
- Oppositional defiant disorder (ODD)
- Phobias
- Psychosis
- Schizophrenia
Pregnancy/Development
- Spina bifida
- Anencephaly
- Encephalocele
- Iniencephaly
- Down syndrome
- Infertility
- Polycystic ovary syndrome
- Recurrent pregnancy loss/miscarriage
Improving Your Health With An MTHFR Mutation
Improving your diet and including more leafy green vegetables is an important first step.
Doing everything you can to help stress until you can get the methylation balanced is key (yoga, Tai Chi, walking in nature, avoiding stressful events).
To get started now, you can take a look at our “How to get started with MTHFR supplements” video below, or, download our guide on how to start supplementing MTHFR products.
If you do not know if you have a MTHFR gene mutation yet, getting tested is the best way to move forward. Read more about getting tested for MTHFR gene mutations.
Most importantly I believe you should be empowered to make key decisions about your own health. So if you agree with me, please join my Patient Resource Center to meet like minded people who are already taking control and getting the information they need to make informed choices. Its also fun to have a community you can speak to and share information. Sign up here.
