The SHMT gene gives your body instructions on how to make the enzyme serine hydroxymethyltransferase. This enzyme helps facilitate the conversion of serine to glycine, and tetrahydrofolate to 5,10-methylene tetrahydrofolate.1 These reactions support the synthesis of methionine, thymidylate, and purines in the cytoplasm of cells.1
The process of converting serine to glycine plays a role in neurotransmitter synthesis, metabolism, and SAMe synthesis.2 The conversion of serine to glycine helps to shift the emphasis of the methylation cycle away from processing homocysteine, and towards the production of the building blocks needed for new DNA synthesis. SHMT SNPs can interfere with the delicate balance of the methylation cycle, which may result in high levels of homocysteine and depletion of methylation cycle intermediates.
The conversion of tetrahydrofolate to 5,10-methylene tetrahydrofolate plays a role in how folate is broken down in the body, and is critical for cell growth.3
Mutations in SHMT have been associated with various diseases, including tumor growth and prognosis, increased DNA damage, and disruptions in folate which result in decreased methylation.4
When combined with MTHFR mutations, SHMT SNPs may have a cumulative effect and result in elevated homocysteine levels. Increased homocysteine levels have been associated with cardiovascular disease, stroke, vascular dementia, and Alzheimer’s disease.5,6 These risk factors are related to B vitamin and folate levels in the body.5,6
A Note From Dr. Amy
If the methylation cycle is not functioning properly, SHMT can act as a bypass around the pathway to aid in the clearance of (what can be toxic) buildup of high levels of intermediates that are unable to be cleared from the cycle. This is one of the reasons I prefer supplementation with SHMT to support the “short route” of the methylation cycle instead of glycine, trimethylglycine (TMG), or high doses of folinic acid (which can prevent SHMT from functioning properly).
I’m not sure if I have an SHMT mutation, how can I find out?
Our DNA Nutrigenomic Test identifies a custom panel of 30 single nucleotide polymorphisms (SNPs), designed by Dr. Amy. This panel tests for the C1420T SHMT variation.
While there are thousands of genes and SNPs that can be examined, Dr. Amy has designed The DNA Nutrigenomic Test panel to focus on 30 SNPs that are part of the methylation cycle. This is a key nutritional pathway in the body that is central to health.
Many of the SNPs in Dr. Amy’s custom panel are in the control or regulatory portion of the gene, meaning these SNPs can have a significant impact on your health. These include some of the more unique SNPs on this panel and are not always covered by other DNA profile tests.
The analysis includes supplement suggestions based on personalized results and provides a comprehensive assessment of the methylation cycle. Proper function of the methylation cycle is essential for several key pathways in the body. When genetic mutations, or “weaknesses”, are present in this cycle, there may be increased risk factors for a range of health concerns. To learn more about the DNA Nutrigenomic Test and The Yasko Protocol, read our Getting Started Packet here.
How can I support my SHMT mutation?
Nutrigenomic pathways are different between individuals and proper supplementation can help support specific imbalances. Holistic Health International offers a variety of supplements to support a SHMT mutation within the SNP Support Category here.
Iron Strong™ capsules were originally named after those with SHMT SNPs in their genetics, these capsules contain a proprietary blend that offers a wide spectrum of benefits, even if you don’t know your genetics. The formula contains a low-dose form of folinic acid and is a source of the building blocks of DNA nutrients. Designed to help balance iron in the body and support those struggling with iron-related chronic bacterial issues.
You do not need to use every supplement listed in each category! Supplements are provided as options to discuss with your own health care professional, to gradually add in as you feel they are needed, and for additional consideration based on biochemical test results.
The beauty of looking at targeted SNPs in the methylation cycle is that it’s a nutritional pathway, meaning if you find a mutation or imbalance in your system, you have ways to support or bypass them.
The information expressed on this webpage does not constitute an attempt to practice medicine nor does it establish a doctor-patient relationship. Content on the site is for informational and educational purposes only. The information expressed is not meant to replace you working with a physician or health care practitioner.
Information and statements have not been evaluated by the U.S. Food & Drug Administration (FDA) and are not intended to diagnose, treat, cure or prevent any disease or be used as the basis for treating a particular symptom or disease. Any products discussed or endorsed are not intended to diagnose, treat, cure or prevent any diseases or be used as the basis for treating a particular symptom or disease. If you have specific healthcare concerns or questions about the products displayed, contact your licensed healthcare professional for advice or answers.
References:
1. SHMT1 serine hydroxymethyltransferase 1 [ Homo sapiens (human) ]. 2023, March 29. Accessed 2023, April 25. https://www.ncbi.nlm.nih.gov/gene/6470
2. Razak MA, Begum PS, Viswanath B, Rajagopal S. Multifarious Beneficial Effect of Nonessential Amino Acid, Glycine: A Review. Oxid Med Cell Longev. 2017;2017:1716701. doi:10.1155/2017/1716701
3. Menezo Y, Elder K, Clement A, Clement P. Folic Acid, Folinic Acid, 5 Methyl TetraHydroFolate Supplementation for Mutations That Affect Epigenesis through the Folate and One-Carbon Cycles. Biomolecules. Jan 24 2022;12(2) doi:10.3390/biom12020197
4. Nonaka H, Nakanishi Y, Kuno S, et al. Design strategy for serine hydroxymethyltransferase probes based on retro- aldol-type reaction. Nat Commun. Feb 20 2019;10(1):876. doi:10.1038/s41467-019-08833-7
5. Ganguly P, Alam SF. Role of homocysteine in the development of cardiovascular disease. Nutr J. Jan 10 2015;14:6. doi:10.1186/1475-2891-14-6
6. Seshadri S, Beiser A, Selhub J, et al. Plasma homocysteine as a risk factor for dementia and Alzheimer’s disease. N Engl J Med. Feb 14 2002;346(7):476-83. doi:10.1056/NEJMoa011613
