Homocysteine, an essential molecule crucial for various cellular processes promoting good health, can become problematic when its levels exceed optimal thresholds. According to Boston Heart Diagnostics, concentrations above 15 umol/L are considered high, with an ideal target below 10, as outlined in their reference ranges.
During lunch one day at the spa, my daughter, Chloe mentioned her new favorite “biohacker” and podcaster, Gary Brecka. When UFC President Dana White publicly shared his health transformation story attributing his success to the methods of a "health guru" named Gary Brecka, it triggered my curiosity.
For those unfamiliar, White discovered through a series of comprehensive blood tests that he faced a high risk of heart disease. Dealing with high blood pressure and increased homocysteine levels, Brecka suggested White had a life expectancy of only 10 years in that condition. Following an overhaul of his health, which involved prioritizing the reduction of homocysteine, Brecka believes White has extended his life expectancy threefold.
Elevated homocysteine levels are linked to adverse health effects, including heightened cardiovascular risks, increased susceptibility to neurological disorders, compromised bone health, and its role as a general health predictor.
Normally, homocysteine is converted into less harmful compounds like methionine or cysteine, crucial for cellular functions. This conversion is primarily driven by an enzyme called methionine synthase (MS), using 5-MTHF to donate a methyl group. Reduced levels of 5-MTHF, common in individuals with diminished MTHFR function, can hinder this process, resulting in homocysteine accumulation.
You might be familiar with homocysteine concerning the MTHFR (Methylene tetrahydrofolate reductase) or the “Mother F*Cker” gene and its association with two significant SNPs, namely C677T and A1298C.
Genes and SNPs Influencing Homocysteine Concentrations
Amid the focus on MTHFR, it's often overlooked that various other genes, along with their associated SNPs, can impact homocysteine levels. In an upcoming post, I'll delve into details about these genetic elements and their effects on homocysteine, emphasizing crucial nutritional interventions. For those concerned about their genetic impact on homocysteine levels, a straightforward blood test is available at Body Tonic, providing quick insights into your homocysteine levels. We have in-house labs and even further testing that I will discuss in our next few blogs. With a new year coming, Body Tonic will be expanding our wellness side to include more tests, including nutrient deficiencies, methylation, genetic testing and HRT membership programs.
7 Genetic Variants Linked To High Homocysteine Levels
As previously mentioned, MTHFR, along with its two pivotal SNPs, stands out as one of the most familiar components within the one-carbon and broader methylation pathways.
cystathionine-beta-synthase (CBS). This particular enzyme operates to transform homocysteine into cysteine, thereby restricting its potentially detrimental accumulation. This pathway represents one of the three methods employed to reduce the buildup of homocysteine.
Serine hydroxymethyltransferase 1 (SHMT1) is an enzyme within the one-carbon pathway responsible for converting tetrahydrofolate (THF) and the amino acid serine into 5,10-MTHF, serving as the necessary substrate for MTHFR.
Methionine synthase (MS) stands as a pivotal enzyme within the methionine cycle, integral to the broader methylation pathway. MS facilitates the conversion of homocysteine into methionine, utilizing 5-MTHF as a supplier of a methyl group. In instances where there's insufficient 5-MTHF, as observed in individuals with less functional MTHFR, this reaction halts, resulting in the buildup of homocysteine.
Methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), also known as methionine synthase reductase (MSR) for a simpler reference, interacts with the above mentioned MS. MS, responsible for converting homocysteine into methionine utilizing MTHF produced by MTHFR as a methyl donor, requires vitamin B12 as a co-factor, which gradually becomes inactive over time. MTRR plays a role in dissociating the link between methionine synthase and inactive vitamin B12, enabling the binding of a new functional vitamin B12 molecule. This process ensures the continuous production of methionine. Additionally, within MTR, there exists a single SNP associated with elevated homocysteine, known as rs1801394 or A66G.
Betaine-Homocysteine S-Methyltransferase (BHMT) is an enzyme responsible for transforming homocysteine into methionine. It achieves this by substituting a hydrogen atom on homocysteine with a methyl group provided by a betaine molecule. BHMT additionally controls the transformation of homocysteine into methionine, offering an alternative pathway for its degradation.
The catechol-O-methyltransferase (COMT) enzyme, although somewhat distinct from the previously mentioned genes, can also contribute to homocysteine accumulation through SNPs impacting its activity.
There are several potential nutritional interventions for specific SNPs. It’s probable that you may carry multiple SNPs across various genes, leading to potential interactions and occasionally conflicting findings. To aid in understanding the relative quality of data supporting each SNP's effect, Body Tonic has made it possible to identify what the possible nutrient deficiency that is occurring may help correct these levels. This information empowers you to construct your personalized nutritional plan based on this data.
We don’t only test for homocysteine levels, our team looks at testing scores for fat metabolism, MTHFR status, histamine clearance, carbohydrate tolerance, and more. Where do you fit?
If you are interested in learning more, call us today to schedule a consultation!