What is MTHFR?
MTHFR stands for Methylene-TetraHydroFolate Reductase (MTHFR). MTHFR is a gene that helps your body make methyl folate. It converts the folate you eat, into active folate your body can use (Folate → 5-methyltetrahydrofolate). The MTHFR gene has the information needed to make this important enzyme.
Why is it important that we have folate?
Folate is essential for DNA repair, growth, nitric oxide production. It helps us make SAMe (this is the universal methyl donor in the body – it acts like a master ‘On/Off’ Switch for our biochemistry), it helps blood cells mature, it helps us create important brain chemicals like tyrosine, noradrenaline, serotonin and choline and it helps reduces the expression of chromosomal mutations.
How do you know if you have low folate?
Some symptoms that might give you a clue that your folate is too low are:
- Age related hearing loss
- Bronchial issues
- Cervical dysplasia
- Cleft lip, cleft palate
- Cognitive delay
- Colorectal adenomas
- Chrosome breaks
- Cracks on the lips
- Difficulty breathing
- Grey hair
- Growth Impairment
- Heart Palpitations
- High homocysteine
- Impaired special memory
- Pre-term delivery
- Radiation Induced DNA damage
- Multiple miscarriages
- Neural Tube defects
- Poor placental growth
- Premature rupture of membranes
- Red tongue
- Restless Legs
- Skin Disorders
What Is an MTHFR Gene Mutation?
MTHFR gene mutations are one of the most studied mutations because MTHFR is one of the most relevant genes in the human body. Knowing if you have a genetic mutation in this gene may help you overcome lifelong health issues.
The MTHFR enzyme is a protein made up of amino acids. Each amino acid has a specific 3-letter code within your DNA. A mutation or single nucleotide polymorphism (SNP) changes one letter in the 3-letter code for a specific amino acid which slows down the enzyme. Depending on the mutation you may have up to 75% less than you should. This can be very relevant.
The MTHFR gene mutation alters the chain of amino acids that make up the MTHFR enzyme changing its overall shape. It’s important to understand that an enzyme's shape gives rise to its function. So for example, the MTHFR C677T means that at place 677 on chromosome 1, the Cytosine has been changed to a Thymine. This change causes the amino acid sequence to change that makes the MTHFR enzyme.The result is a dysfunctional enzyme (it’s slower) and so it will produce less 5-methylfolate production.
The overall shape of the MTHFR enzyme varies based on what MTHFR gene mutations are present. Each unique mutation has a different impact on how the MTHFR enzyme performs within the body. There are currently 34 different known MTHFR gene mutations. The two most researched mutations are C667T and A1298C.
What are the types of MTHFR Gene Mutation?
Depending on the mutation you have the consequences are slightly different. Each mutation follows a similar trend towards less methylation within the body or less active folate production (5-MTHF). If a mutation is present, the enzyme can have a 20% to 70% loss of function.
Since everyone has two copies of each gene (one from each parent), loss of function depends on whether there are one or two copies of the MTHFR gene mutation present.
- One copy of a gene = Heterozygous (C677T= ~40% loss, A1298C=~20% loss) (This means you have one copy that was mutated from mom OR dad)
- Two copies of a gene = Homozygous (C677T=~70% loss, A1298C=~40% loss) (This means you have one copy mutated from both your mom AND dad)
- One copy of both C667T and A129C = compound heterozygous = ~50% loss. (This means mom and dad/ Mum or Dad gave you one copy of C667T and A1298C).
In general, less methylation occurs in people who have two copies of an MTHFR gene mutation.
MTHFR Mutations = Less Methylation
Methylation is responsible for turning multiple processes within cells “on or off”.
Proper methylation (adding/removing methyl groups (CH3) from molecules) within the body ensures cells are doing their job.
Think of methylation as a master switch. Any biochemical product that ends in MT is a methyltransferase. Methyls act as a switch for methyltransferases, they make them stop and go. Methyltransferases have important biochemical roles in our bodies. For example:
- The breaking down of toxic oestrogens through hormone production via COMT
- The health of cellular membranes and energy through choline production via PEMT
- Creation of Creatine production for muscle growth
- Helping to break down Noradrenaline to Adrenalin via PNMT
- For a more indepth understanding of the importance of methyltransferases click here (your methyltransferase article))
When methylation is not working or down regulated, the body is not able to produce correct responses to the environment, damaging the body. Certain process within cells will be turned on or off for too long, leading to an impaired ability to:
- Get rid of toxins (detoxification)
- Repair and rebuild DNA/RNA
- Produce and process hormones
- Build immune cells
- Repair cell membranes
- Turn the stress response on and off
- Metabolize fat
- Produce energy
- Recycle and build neurotransmitters
When these vital cellular processes are not working correctly, adverse symptoms can arise such as: cardiovascular disease, impaired immunity, chronic inflammation, diabetes, anxiety, depression, chronic fatigue, cancer, fibromyalgia infertility and miscarriages. Problems with methylation will amplify the symptoms of existing autoimmune and psychiatric conditions. For a more in depth analysis about the symptoms of MTHFR mutations click here. (yes mthfr symptoms / conditions article
It is important to know if you have a mutation in the MTHFR gene. Approximately 50-65% of the population has an MTHFR gene mutation.
However, if you have a mutation, this DOES NOT mean you have a problem with your health. Your environment plays a big role in determining the outcomes of mutations, which we will go over later in this article.