Research has shown that many individuals may be at risk of methylation insufficiency due to reduced MTHFR enzyme function.
The MTHFR (methylenetetrahydrofolate reductase) gene produces an enzyme that helps process folate and regulate homocysteine in the body. Folate is a critical nutrient involved in methylation, DNA synthesis and amino acid metabolism. Impaired folate metabolism due to MTHFR enzyme inactivity or a low folate level results in elevated plasma homocysteine.
Homocysteine is an amino acid synthesized by the body through demethylation of methionine. In the presence of adequate B-vitamins, homocysteine is either irreversibly degraded to cysteine or it is remethylated back to methionine, an essential amino acid. An elevated homocysteine level is known to be an independent risk factor for ischemic stroke, thrombotic and cardiovascular diseases. Folate, vitamin B6 and vitamin B12 are all necessary molecules for the proper conversion of homocysteine into methionine. A deficiency in any one of these molecules can cause homocysteine levels to rise.
The two single nucleotide variants known to affect MTHFR function are the C677T (a change from cytosine to thymine at position 677 within the gene) and A1298C (a change from adenine to cytosine at position 1298 within the gene) mutations. It is not uncommon for some individuals to have both MTHFR variants.
Clinical relevance is associated with homozygosity for either C677T or A1298C, and the compound heterozygous state (presence of both heterozygous alleles C677T/ A1298C). In general, these variants produce an MTHFR enzyme with reduced function and activity.
Reduced functionality of MTHFR can cause homocysteine levels to escalate, and this issue is intensified with low levels of folate. Genotyping of the MTHFR gene can inform physicians of a patient's predispositions for elevated homocysteine. With this knowledge, physicians can recommend a proper diet and make medical recommendations to help decrease elevated plasma homocysteine.
Kashi Clinical Laboratories utilizes a variety of molecular biology techniques including Luminex, Real-Time PCR, Sanger sequencing, and Next Generation Sequencing.
Samples are accepted Monday through Friday. Overnight shipments should be sent Monday through Thursday. Please overnight samples, at room temperature, along with the completed test requisition, to:
Attn: SNP Laboratory
10101 SW Barbur Blvd., Suite 200
Portland, ORE 97219
What is the Next Step?
Make Kashi Health's Genetic Testing part of your patient's treatment plan today.
- Request Buccal Swab Test Kits
- Download a Test Requisition
- Review Our Sample MTHFR Report
- Request Additional Information
- Frosst P et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111–3.
- Van der Put NM et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet. 1998; 62(5):1044–51.
- Weisberg I et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998; 64:169–72.