MTHFR Polymorphisms

MTHFR Polymorphisms

Our genes have a significant influence over our health and they may have variations, called single nucleotide polymorphisms (SNPs), affecting the way we process nutrients or our dietary requirements.

MTHFR Polymorphisms affect the metabolism of folate and may predispose these individuals to a variety of nutrient deficiencies. MTHFR gene provides instructions for the MTHFR enzyme, called methylenetetrahydrofolate reductase, which plays a role in processing amino acids and is essential for healthy methylation.

Folic acid, consumed from supplements or fortified foods such as wheat breads or cereals, once absorbed, requires additional metabolic steps before it can enter the circulating plasma folate pool.

MTHFR gene has been found to express 14 severe yet rare SNPs and 2 more common SNPs, C677T and A1298C. These two common SNPs have been found to lead to a decrease in the functionality of the MTHFR enzyme, affecting folate status, homocysteine, DNA methylation and gene regulation. Whilst it has received a lot of attention in recent years, it is important to note that MTHFR is only one of the several genes involved in the methylation cycle, and is therefore, only a small part of a much larger process.

There are 3 genotypes of MTHFR gene: wild type (normal), heterozygous and homozygous.

Heterozygous – meaning 1 copy of the gene from mum or dad

Homozygous- meaning 2 copies of the gene, one each from mum and dad

What Is Methylation And Why Does It Matter?

Methylation is a biochemical process that is involved in almost all body functions, and not surprisingly, methylation disturbances have been linked to many chronic disease states.

What Does Methylation Do?

• Repairs and builds DNA and RNA
• Turns genes on and off
• Detoxifies chemicals and heavy metals
• Builds immune cells
• Turns the stress response on and off
• Reduces the aging process, as it protects telomeres
• Repairs cell membranes and provides myelination for nerves
• Reduces histamine
• Supports and regulates neurotransmitter production necessary to prevent depression, anxiety and insomnia

Functions Of Folate

Folates play crucial roles in:

• Synthesis of nucleotides
• Cell growth
• Homocysteine metabolism

Hence Folate Deficiency Relates To:

• DNA damage
• Altered methylation
• Hyperhomocysteinemia

These are all associated with a wide range of diseases, but many of the negative health outcomes associated with MTHFR polymorphism may largely be overcome by ensuring adequate folate status and using targeted supplements.

At Solutions to Health we help you to understand which forms of folate may benefit you, based on your genetic polymorphism.

If you would like to find out more about how genetic screening can benefit your health, don’t hesitate to contact us.