Genetic Test / MTHFR

MTHFR is an enzyme responsible for converting 5,10-methylenetetrahydrofolate to the product 5-methyltetrahydrofolate – it is involved in the metabolism of folate and homocysteine. The product of the reaction catalyzed by MTHFR converts homocysteine (a potentially toxic amino acid) to methionine (a useful and necessary amino acid).

Why is MTHFR Genotyping Important?

  • Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity.
  • Reduced activity can lead to elevated levels of homocysteine (a.k.a. hyperhomocysteinemia), especially when folate levels are low.
  • High homocysteine (>13umol/L) may double the risk of developing illness or complications.
    MTHFR genotyping can provide information about potential causes of elevated homocysteine and approaches for addressing it.
  • Based on MTHFR and homocysteine results, physicians can develop dietary and medical recommendations – increased intake of folate alone or in combination with vitamins B6 and B12 are recommended.
  • Based on results, recommendations for methotrexate dosage can be adjusted.

Risks Associated with MTHFR Variants/High Homocysteine:

  • Cardiovascular Disease
  • Cerebral Vascular Disease (Stroke)
  • Venous and Arterial Thrombosis
  • Methotrexate Toxicity for Cancer Therapy

Who Should be Tested?

  • Those with high homocysteine levels.
  • Those who have a familial history of cardiovascular disease, stroke orthrombosis.
  • Those who are candidates for long-term methotrexate therapy.
Detoxigenomic Profile

DetoxiGenomic® Profile and a la carte SNPs to assess risk

According to the CDC, precision medicine, also called personalized medicine, is an individualized approach to patient care taking into account genetics, lifestyle, and environmental factors. Single Nucleotide Polymorphisms, or SNPs, are genetic variants that may predispose your patients to numerous chronic diseases. Testing can help clinicians identify a patient’s genetic predispositions and tailor therapeutics accordingly.

Who can benefit from SNP testing?

Researchers have identified thousands of SNPs that relate to almost every chronic disease. Truth is, everybody has SNPs. SNPs are common and generally do not result in life-threatening presentations like genetic mutations, which are rare. SNPs are more subtle and act by reducing cellular functions and ultimately an optimal quality of life. Genomic testing can minimize risk by identifying hidden gene polymorphisms that may promote chronic disease. Many people mistakenly assume that the presence of a SNP means they are destined to experience the associated disease. Fortunately, most genes have flexible expressions and often are influenced by modifiable environmental, diet, and lifestyle factors.

In some instances, genotypic SNP testing may prompt phenotypic monitoring of associated biomarkers. For example, if a patient has a polymorphism for MTHFR, homocysteine may be more closely monitored.

SNP testing may be appropriate for patients with:

• Chronic conditions that resist treatment
• Family history of cardiovascular disease, mood disorders, Alzheimer’s, cancer, or autoimmune disease
• Inflammatory conditions
• Cardiovascular disease
• Mood disorders
• Osteoporosis
• Metabolic disorders (insulin resistance)
• Chemical sensitivity
• Asthma and lung problems
• Cognitive decline

About the Genomic Offerings

  • DetoxiGenomic Profile evaluates over 20 SNPs related to phase 1 and phase 2 detoxification pathways. These SNPS are associated with increased risk of impaired detoxification capacity especially when exposed to environmental toxins. It also identifies individuals potentially susceptible to adverse drug reactions. See sample report for list of SNPs.
  • A la carte SNPs
    • ApoE – Apolipoprotein E is involved in lipid metabolism and certain polymorphisms can result in increased cardiovascular disease risk and Alzheimer’s disease.1,2
    • COMT – Catechol-O-Methyltransferase polymorphisms can result in reduced enzyme activity associated with neuropsychiatric disorders, impaired estrogen metabolism, and increased sensitivity to pain.3,4
    • GSTP1 or GSTM1 – Glutathione S-Transferase polymorphisms are associated with a decreased ability to detoxify a majority of substances, which can result in oxidative stress and chronic disease risk.5
    • MTHFR (C677T, A1298C) – Methyl tetrahydrofolate Reductase – Polymorphisms of this enzyme can disrupt the metabolism of homocysteine, resulting in its accumulation as well as impaired methylation. The presence of these SNPs can increase risk of cardiovascular disease, blood vessel damage, thrombosis (blood clots), stroke, and degenerative aging.6
    • SOD2 – Superoxide Dismutase is an antioxidant enzyme and polymorphisms are associated with reduced SOD activity, increasing risk of oxidative stress.7,8
    • TNFα – Tumor Necrosis Factor-alpha is a proinflammatory cytokine and polymorphisms are associated with inflammation, oxidative stress, and numerous disease implications.9
    • VDR – Vitamin D Receptor polymorphisms are associated with decreased bone density and osteoporosis.10
  • SNPs available as add-ons to other profiles including
    • NutrEval and Metabolomix+ – MTHFR, COMT, ApoE, TNF-α
    • Methylation Panel – MTHFR, COMT, CBS, MTRR, MAT1A, SHMT1, MTR, BHMT, GNMT
    • Essential Estrogens – CYP1B1, MTHFR, COMT, VDR