What does the MTHFR gene do biologically?

In this episode, guest host Amanda Jones and Victoria speak with Sara Russell about the MTHFR gene (the gene that leads to the creation of the methylenetetrahydrofolate reductase enzyme) and the different variants that might (emphasis on MIGHT) impact your health.

Be prepared before you dive in…this is a longer discussion that covers many aspects of MTHFR, both hypothetical (primarily what we’ve seen in influence-y spaces like social media) and actual (what we’ve read in research studies and seen in clinical practice).

We discuss the role of MTHFR variants in autism spectrum disorders, infertility, and other diagnoses, as well as the use of methylated B vitamins versus folic acid and folinic acid.

Some of the studies Amanda, Victoria, and Sara reference include:

* Overview of MTHFR and variant biochemistry

* Basic write-up on MTHFR variants from the CDC

* Connection to autism - here, here, and here

* The connection between one variant (C677T) and blood folate levels

* Homocysteine in disease

* Helpful overview of homocysteine and why low levels might also be problematic

* The connection between homocysteine and infertility

* Genetic Biomarkers of Metabolic Detoxification for Personalized Lifestyle Medicine

* Adverse Effects of Excessive Folic Acid Consumption and Its Implications for Individuals With the Methylenetetrahydrofolate Reductase C677T Genotype

* Homocysteine and Psychiatric Disorders

* Slow overmethylation of housekeeping genes in the body mucosa is associated with the risk for gastric cancer

* Active Folate Versus Folic Acid: The Role of 5-MTHF (Methylfolate) in Human Health

* DNA methylation in cancer: too much, but also too little

* Homocysteine Imbalance: a Pathological Metabolic Marker

* Homocysteine metabolism as the target for predictive medical approach, disease prevention, prognosis, and treatments tailored to the person

* Disturbed homocysteine metabolism is associated with cancer

* Intake of Methyl-Related Nutrients and Risk of Pancreatic Cancer in a Population-Based Case-Control Study in Minnesota

* Association of MTHFR C677T and A1298C Polymorphisms with First-Episode Myocardial Ischemia: A Case–Control Study

* https://pmc.ncbi.nlm.nih.gov/articles/PMC3294042/

* https://pmc.ncbi.nlm.nih.gov/articles/PMC5536672/

* https://pubmed.ncbi.nlm.nih.gov/37187267/

* https://reference.medscape.com/drug/leucovorin

* https://pmc.ncbi.nlm.nih.gov/articles/PMC6346075/

* https://pubmed.ncbi.nlm.nih.gov/22369260/

* https://pubmed.ncbi.nlm.nih.gov/18355335/

* https://pubmed.ncbi.nlm.nih.gov/6781067/

* https://pubmed.ncbi.nlm.nih.gov/12566489/

* https://pubmed.ncbi.nlm.nih.gov/10759136/

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