"MTHFR is a key gene in methylation"

WHAT IS MTHFR?

The MTHFR gene provides the code for the MTHFR enzyme to metabolize folate. It takes folate from food and converts it into its active form, 5-methyltetrahydrofolate (5-MTHF). This methyl form of folate is used in the body in a process called methylation.

WHAT IS METHYLATION?

Methylation is a biochemical process, whereby a methyl group, consisting of 1 carbon and 3 hydrogen atoms is transferred onto a substrate including DNA, RNA, neurotransmitters, hormones, immune cells, and nerve cells. Once these compounds are methylated, they are able to commence their required functioning.

FUNCTIONS OF METHYLATION

Some of the main functions of methylation are:

  • Breakdown of histamine via the Histamine-N-Methyltransferase (HNMT) enzyme
  • Detoxification of environmental toxins including heavy metals such as mercury, arsenic, cadmium, and lead
  • Detoxification of oestrogen via the Catechol-O-Methyltransferase (COMT) enzyme
  • Synthesis of neurotransmitters including dopamine, noradrenalin, and adrenalin which are important for a mood and a healthy stress response
  • Synthesis of melatonin for sleep
  • Synthesis of bile acids for the metabolism of fats
  • Synthesis of healthy cell membranes which is essential for protecting cells from harmful substances, cell signaling and differentiation
  • Gene expression regulation: Methylation plays a critical role in regulating gene expression, which can impact various cellular processes, including cell differentiation and growth.
  • Energy production: Methylation is involved in the metabolism of homocysteine, a byproduct of amino acid metabolism, which can affect energy production and overall cellular health.
  • DNA repair: Methylation is involved in repairing damaged DNA and maintaining genome stability.

SIGNS & SYMPTOMS OF POOR METHYLATION
  • Fatigue: Poor methylation can lead to decreased energy production, resulting in fatigue and low energy levels
  • Brain fog: Methylation is involved in the synthesis of neurotransmitters, such as dopamine and serotonin, which are essential for cognitive function. Poor methylation can result in decreased neurotransmitter synthesis and cognitive impairment, including brain fog and memory problems.
  • Mood disorders: Methylation is involved in the regulation of mood and behavior, and poor methylation has been associated with an increased risk of depression, anxiety, and other mood disorders.
  • Cardiovascular disease: Poor methylation can lead to increased levels of homocysteine, an amino acid that has been linked to an increased risk of cardiovascular disease.
  • Hormonal imbalances: Methylation is involved in the metabolism and elimination of hormones, and poor methylation can result in hormonal imbalances, including estrogen dominance, which has been associated with various health problems.
  • Digestive issues: Poor methylation has been linked to digestive issues, including inflammatory bowel disease and leaky gut syndrome.
  • Autoimmune disorders: Methylation is involved in regulating the immune system, and poor methylation has been associated with an increased risk of autoimmune disorders, such as rheumatoid arthritis and lupus.
  • Allergies: Methylation is involved in regulating the immune system, and poor methylation has been linked to an increased risk of allergies and sensitivities.
  • Insomnia: Methylation is involved in the regulation of the sleep-wake cycle, and poor methylation has been associated with insomnia and other sleep disorders.
  • Skin problems: Methylation is involved in the synthesis and metabolism of collagen, a key component of skin health. Poor methylation has been linked to skin problems, including premature aging, dryness, and acne

HOW MY PRACTICE CAN SUPPORT YOUR METHYLATION

 

1. Identify the cause of your methylation issues

Having worked with hundreds of patients with MTHFR and methylation issues, Joanne has identified the major causes of methylation issues which are:

  • Poor gut health – this causes malabsorption of the essential nutrients required for methylation including protein, folate, vitamin B12, Vitamin B6, zinc and choline.
  • Stress – stress depletes the body of methyl groups so that you don’t have enough for other processes such as detoxification and histamine break down.
  • Heavy alcohol consumption – alcohol depletes B vitamins, which are essential for the proper functioning of the methylation pathways.
  • Consumption of Folic acid – folic acid is a synthetic form of folate that blocks the uptake of natural folate from food.
  • Environmental toxin exposure – these place a heavy burden on the methylation pathways in the liver as well as deplete glutathione (the body’s major antioxidant).
  • Bacterial, viral, fungal, parasitic infections – infections cause inflammation, which will deplete the body of glutathione. In turn, homocysteine is lowered, resulting in inadequate amounts of homocysteine needed for methylation.
  • Mould illness and oxalate toxicity – both can cause low homocysteine.
  • Inadequate Vitamin B12 intake – Vitamin B12, which is only found in adequate amounts in animal protein, is essential for the proper functioning of the methylation pathways. Vegans and vegetarians are very susceptible to having low vitamin B12.
  • Low Vitamin B6 and Zinc – deficiency in B6 and zinc is seen in people with pyrroluria and/or an overload of oxalate in the body. Oxalates can build up due to gut issues (yeast overgrowth, low levels of good bacteria, poor fat absorption), calcium deficiency, Vitamin B6 deficiency, and consuming foods high in oxalates.

2. Refer to the right tests

Doing the right tests is important to identify the cause of poor methylation.  It’s not always necessary to test for the MTHFR gene mutation as it’s only one gene in the methylation pathway.  Understanding what is impacting the MTHFR gene from the internal and external environment (ie, epigenetics) is more important.

We use the following blood tests to help assess each individual patient:

  • Full blood count
  • Biochemistry
  • Lipid studies
  • Iron studies
  • TSH
  • RBC folate
  • Active B12
  • Fasting homocysteine
  • Plasma zinc
  • Serum copper
  • Vitamin D

We also use the following functional medicine tests:

  • SIBO Test
  • Comprehensive Digestive Stool Analysis
  • Complete Microbiome Mapping
  • DUTCH Hormones Test
  • Organic Acids Test

Please note, not every patient needs to get these tests done.  Often signs and symptoms clearly indicate the cause of poor methylation.  You will be advised if you require any testing at your initial consultation.

3. Prescribe the right supplements

With so many supplements on the market, it’s easy to get overwhelmed and confused.  Having treated hundreds of patients with MTHFR & methylation issues, Joanne has identified the supplements that really work to provide positive results for her patients.  Simply taking methylfolate, methylcobalamin, B vitamins or SAMe is not the answer.  Often these supplements can make your symptoms worse.

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