What is the Origin of MTHFR Gene and Hormones?

The term combines the genetic abbreviation MTHFR with the clinical domain of Hormones, reflecting a key discovery in nutrigenomics linking genetic variations in B-vitamin metabolism to steroid hormone regulation. This genetic insight has become central to functional and integrative endocrinology.

What is the Mechanism of MTHFR Gene and Hormones?

MTHFR-mediated methylation is a critical step in Phase II liver detoxification, specifically in the process catalyzed by the COMT enzyme, which methylates the hydroxylated estrogen metabolites (like 2-OHE1 and 4-OHE1) to render them inactive and ready for excretion. Reduced MTHFR enzyme activity due to common SNPs can slow down this clearance pathway, potentially leading to increased oxidative stress from unmethylated intermediates and disrupting the optimal estrogen metabolite ratio, thus requiring targeted supplementation with methylated B vitamins.

MTHFR Gene and Hormones ∞ Area

MTHFR Gene and Hormones

Meaning

The MTHFR gene, or Methylenetetrahydrofolate Reductase, encodes a crucial enzyme responsible for converting the vitamin folate into its biologically active form, L-methylfolate, which is essential for the universal process of methylation. The connection between the MTHFR gene and hormones lies in the fact that methylation is required for the efficient detoxification and clearance of spent hormones, particularly estrogen, through the liver. Polymorphisms in this gene, such as C677T and A1298C, can impair methylation capacity, potentially leading to a buildup of less favorable estrogen metabolites and contributing to hormonal imbalance.