MTHFR Information Sheet

MethyleneTetraHydroFolate-Reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. MTHFR catalyzes the conversion of a co-substrate for homocysteine re-methylation to methionine. Genetic variation in this gene may influence susceptibility to occlusive vascular disease, neural tube defects, dementia, colon cancer, acute leukemia, and other illnesses, because mutations in this gene are associated with MTHFR deficiency. This genetic variant impairs the ability to process folate and B-12, which often leads to elevated homocysteine levels in some people.

MethyleneTetraHydroFolate-Reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. MTHFR catalyzes the conversion of a co-substrate for homocysteine re-methylation to methionine. Genetic variation in this gene may influence susceptibility to occlusive vascular disease, neural tube defects, dementia, colon cancer, acute leukemia, and other illnesses, because mutations in this gene are associated with MTHFR deficiency. This genetic variant impairs the ability to process folate and B-12, which often leads to elevated homocysteine levels in some people.

Other Causes of Elevated Homocysteine:

·       Kidney Disease
·       Hypothyroid (low levels of thyroid hormones)
·       Psoriasis
·       Medications (such as antiepileptic drugs and methotrexate)

Prevalence:

·       50-60% of people express some MTHFR polymorphism, 677 and 1298 being the most common
·       C677T: estimated 10% of the population
·       7 other common types, many other more rare types

Functions of Methylation:

·       Activation and deactivation of certain genes
·       Processes chemicals and toxins for detoxification
·       Neurotransmitter production
·       Hormone processing
·       Builds immune cells (T-cells, NK-cells)
·       Produces energy (with CoQ 10, Carnitine, ATP)
·       Produces energy (with Co-Q 10, Carnitine, ATP)
·       Produces a protective coating on nerves (Myelination)

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Associated Conditions
(Symptoms of both genetic variants can overlap)

C677 linked to:                                                                                      A1298T linked to:

Elevated homocysteine and heart disease                                          Depression

Stroke                                                                                                      Fibromyalgia

Deep Vein Thrombosis                                                                          Chronic Fatigue Syndrome

Peripheral Neuropathy                                                                          Migraines

Placental Vascular Issues (Stillbirth)                                                    Dementia

Pre-eclampsia                                                                                        Nerve Pain

Neural Tube Defects                                                                             Schizophrenia

Poor Detoxification                                                                               Parkinson’s’ Disease

Tetrahydropbiop (BH4) problems

**The statements provided are for informational purposes only. These statements have not been evaluated by the Food and Drug Administration.