Folate Receptor 1 and 2 are members of the folate receptor (FOLR) family. Members of this gene family have a high affinity for folate. Polymorphisms in these genes allow for poor delivery of folate to the interior of cells. This can create a high plasma folic acid. These polymorphisms create a methylation deficiency and are associated with many disorders of pregnancy.

Dihydrofolate reductase, or DHFR, is an enzyme that reduces dihydrofolic acid to tetrahydrofolic acid. This enzyme is the second enzyme in the folic acid conversion chain. Having a mutation in this enzyme can create a methylation deficiency with a MTHFR mutation.

AHCY helps breakdown S-adenosylhomocysteine (SAH), which is a strong inhibitor of methyltransferase activity.

Methylenetetrahydrofolate Dehydrogenase 1 enzyme handles 2 significant enzymes conversions in the production of L-MTHF. This common polymorphism causes a significant methylation deficiency due to the fact that it is utilized in two steps in methyl-folate production.

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the bioactive form of folic acid. Two significant polymorphism variants exist in this gene, the A1298C and the C677T. The 1298 confers a conversion weakness of 10% for one copy and approximately 20% for two copies. In contrast, the 677 variant is much more severe and conveys a 40% conversion weakness for one copy and 70% for two copies. A reduced level of methylfolate produces significant biochemical effects including poor production of dopamine and serotonin, pregnancy complications, poor healing of the nervous system, weak mitochondrial function, reduced production of glutathione, poor cell turnover and poor function of T cell lymphocytes.

MTHFS (methenyletetrahydrofolate synthase) is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates. This polymorphism codes for a decreased function of the enzyme and results in poor utilization of Leucovorin (5-formyltetrahydrofolate).

MTR (Methionine Synthase) codes for the enzyme that catalyzes the final step in methionine biosynthesis. Polymorphisms in this gene lead to poor recycling of methionine from homocysteine. This enzyme work in coordination with MTRR and requires both MTHF and B12 for proper functioning. Deficiencies in Methionine leads to poor methylation that is associated with numerous neurological, cardiovascular and immunological disease states, as well as, infertility and birth defects.

Methionine Synthase Reductase is an enzyme responsible for the production of methionine, a very important amino acid. Polymorphisms in this enzyme require an increased amount of Methyl B12 to help this reaction.

The SLC19A1 gene encodes the reduced folate carrier (RFC) protein. Mutations in the RFC are associated with reduced plasma folate.

The protein product of the transcobalamin 1 (TCN1) gene binds Vitamin B12 and protects it from the low pH environment of the human stomach. Individuals homozygous for the G allele of the TCN1 SNP, rs526934, are predicted to have lower serum B12.

The protein product of the Transcobalamin 2 gene, TCN2, binds the active form of vitamin B-12. Individuals with the G/G phenotype at rs1801198 have decreased serum B-12 and increased homocysteine when compared to individuals with the C/C phenotype.

The glycoprotein product of the Gastric Intrinsic Factor (GIF) gene is secreted by the stomach lining. GIF protein is required for absorption of Vitamin B12. B12 is necessary for normal red blood cell maturation.

The Vitamin D (calcitriol) Receptor is a member of the nuclear receptor family. Upon activation by vitamin D ( a secosteroid), the VDR causes the activation or deactivation of protein production by the cell. Impaired vitamin D function can result in significant immune weakness and increased cancer risk, as well as, early bone loss, an increased risk of cognitive decline and mood disorders.

The NDUFS3 genes encodes a mitochondrial enzyme, NADH Dehydrogenase (Ubiquinone) Fe-S Protein 3. Like other NDUFS proteins, NDUFS3 is thought to require ubiquinone for full activity.

CoQ2 (Para-hydroxybenzoate-polyprenyltransferase, mitochondrial) codes for an enzyme that functions in the final steps in the biosynthesis of CoQ10 (ubiquinone).. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency. Polymorphisms in this gene can lead to severe fatigue, muscle weakness, exercise intolerance and general mitochondrial weakness.

GC aka DBP (Vit. D Binding Protein) gene codes for Vit. D binding protein. This protein belongs to the albumin family and is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It is manufactured in the hepatic parenchymal cells. DBP is capable of binding to all forms of Vit D including ergocalciferol (vitamin D2) and cholecaldiferol (vitamin D3), the 25-hydroxylated forms (calcifediol) and the active hormonal product, 1,25-dihydroxyvitamin D (calcitriol). The major proportion of vitamin D in blood is bound to this protein. It transports vitamin D metabolites between skin, liver and kidney, and then on to the various target tissues. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Polymorphisms in this gene decrease the affinity of the protein to Vit. D which reduces the response rate to Vit. D therapy. Patients with these polymorphisms require high doses of Vit D supplementation.

ATPase 5c1 (ATP5C1) is an enzyme responsible for producing ATP (the energy component) in the mitochondria. This protein is known as Complex V ( the 5th protein) in the mitochondrial respiratory chain. Polymorphisms in the gene confer a weakened energy production by the mitochondria.

Cytochrome c oxidase subunit 5a (COX5A) is a protein in a subunit of the cytochrome c oxidase complex, also known as Complex IV of the mitochondrial electron transport chain. Polymorphisms in this enzyme produce a weakened energy production by the mitochondria.

Cytochrome c oxidase subunit 6c (COX6C) is a protein in a subunit of the cytochrome c oxidase complex, also known as Complex IV of the mitochondrial electron transport chain. Polymorphisms in this enzyme produce a weakened energy production by the mitochondria.

NADH Dehydrogenase [ubiquinone] iron-sulfur protein 7 (NDUFS7) is a mitochondrial protein also know as Complex I of the mitochondrial respiratory chain. It is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Polymorphisms in this enzyme produce a weakened energy production in the mitochondria.

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8 (NDUFS8) encodes an enzyme in the mitochondrial respiratory chain. Mutations in the NDUFS8 gene are associated with Leigh Syndrome, osteoporosis, and mitochondrial complex I deficiency.

Ubiquinol Cytochrome c Reductase (UQCR, Complex II) is a mitochondrial enzyme protein also known as Complex III of the electron transport chain. Polymorphisms in this enzyme produce a weakened energy production by the mitochondria.

COMT is an important enzyme involved in the metabolism of multiple important endogenous molecules, including the neurotransmitter dopamine and the hormone estrogen. It is implicated in a variety of disorders like OCD, anxiety, breast cancer, and so on. This gene is available in a separate test option.

If there’s a SNP you’re wanting to test that you don’t see listed, just email us or give us a call. We have the capacity to test many different SNPs, including things like AHCY, APOE, MAO-A/B, and much more.