What is Methylation? Importance in Health and Genetic Variants Involved

1/17/25

✍🏼 Marta Alonso

Methylation is a fundamental biological process that occurs in all the cells of the body. This epigenetic mechanism has a direct impact on our health and well-being. From gene expression to the detoxification of the body, methylation plays an essential role in maintaining our biological functions.
What is methylation?
In simple terms, methylation is a chemical reaction in which a methyl group (one carbon atom bonded to three hydrogen atoms) is added to a molecule, in this case, DNA. This process acts like a switch that can "turn on" or "turn off" the expression of genes. That is, methylation is an epigenetic mechanism that regulates which genes are expressed and which remain inactive. Moreover, this process is crucial in energy production, immune system regulation, detoxification, and the synthesis of neurotransmitters such as serotonin and dopamine.
The connection between methylation and health
When the methylation capacity is not functioning properly, it can create imbalances in the body that increase the risk of developing various health conditions, such as:
  • Cardiovascular diseases: An excess of homocysteine in the blood, resulting from poor methylation, can damage blood vessels and promote clot formation.
  • Neurological disorders: Inadequate methylation affects the production of neurotransmitters, which can be related to depression, anxiety, and neurodegenerative diseases such as Alzheimer’s.
  • Fertility or pregnancy problems: This process is also essential for DNA synthesis, proper fetal development, and reproductive health in both men and women.
  • Premature aging: An inefficient methylation metabolism can contribute to the accumulation of toxins and free radicals, accelerating cellular damage and increasing oxidative stress.
Key genetic variants in methylation
The methylation process is influenced by certain genes that encode enzymes involved in this process. Genetic variants (polymorphisms or SNPs) in these genes can alter their function, affecting the efficacy and capacity of methylation. Some of the most relevant genes are:
  1. MTHFR (Methylenetetrahydrofolate reductase):
    • This gene encodes a crucial enzyme for converting folate into its active (methylated) form, which is necessary for methylation.
    • Variants like C677T and A1298C can reduce enzymatic activity, making it difficult to convert folate and increasing homocysteine levels.
  2. MTR (Methionine synthase):
    • This gene regulates the conversion of homocysteine into methionine, an essential amino acid for glutathione synthesis, a powerful antioxidant.
    • The variants may alter the body’s ability to maintain healthy homocysteine levels.
  3. MTRR (Methionine synthase reductase):
    • It is responsible for activating vitamin B12, a fundamental step for recycling the enzyme encoded by the MTR gene. If this enzyme is not recycled efficiently, the methylation cycle is compromised.
  4. CBS (Cystathionine beta-synthase):
    • This gene is involved in the body's detoxification pathway, helping process excess homocysteine with the aid of vitamin B6.
    • Mutations in this gene can lead to the accumulation of toxins.
Nutrigenetics and personalized consultation
Thanks to advances in genomics, it is now possible to identify these genetic variants associated with methylation. This allows for personalized health and nutrition strategies tailored to individual needs. Some approaches include:
  • Specific supplementation: In individuals with variants in the MTHFR gene, it may be beneficial to use active forms of vitamins such as methylfolate (B9) and/or methylcobalamin (B12).
  • Diet rich in key nutrients: Consuming foods rich in folate (spinach, broccoli), B12 (fish, eggs), and betaine (beets, quinoa) to support methylation.
  • Stress control and detoxification: Meditation, exercise, and the use of antioxidants can help compensate for suboptimal methylation.

In summary, through a personalized nutrigenetic approach, this vital process can be optimized to improve our quality of life. At N-GENE, there is a specific report on the methylation cycle that analyzes and interprets the aforementioned genes as well as others involved. Try the best genetic tool for healthcare professionals now and discover your patient's methylation capacity.