Wednesday, April 18, 2012


MTHFR Mutation. Photo from
In my spare time, I love to research topics that interest me. And one that keeps recurring in my world is genetics and how they affect our bodies, our brains, an our lives. One that has long been popping up in my world is MTHFR. In my reading about nutrition and wellness, and how my own body (and my child's) has manifested certain tendencies, I keep coming across research on MTHFR as a tie-in.

Okay, so a little background on MTHFR:

MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase). It is both a gene AND the enzyme that the gene produces. So a mutation of the gene MTHFR affects the production of the enzyme MTHFR. And there can be many different mutations. is fast becoming a favorite resource on MTHFR. 

Mutations in the gene can be tied to/the source of (the ones that have affected my family are in red, and the ones that have affected me personally (or one of my children) are bold in red ):

Addictions: smoking, drugs, alcohol

Amyotrophic lateral sclerosis (ALS)
Bi polar 
Blood clot
Breast Cancer 
Cervical dysplasia
Chronic Fatigue Syndrome
Colorectal Cancer  

Congenital Heart Defects
Connective Tissue Disease
Deficits in childhood cognitive development
Depression in Post-Menopausal Women 
Down syndrome
Deep Venous Thrombosis
Epstein Barr Virus
Esophageal Squamous cell carcinoma 
Gastric Cancer
Gluten intolerence 
Heart Murmurs 
Heavy metal toxicity
Hemolytic anemia
High homocysteine 

Idiopathic male infertility 
Increased bone fracture risk in post-menopausal women
Infant depression via epigenetic processes caused by maternal depression 
Insulin resistant diabetes
Irritable Bowel Syndrome 
Meniere's Disease
Methotrexate Toxicity
Migraines with aura
Multiple Chemical Sensitivity 

Multiple Sclerosis
Myalgic encephalomyelitis  
Myocardial Infarction (Heart Attack)
Neural tube defects 
Nitrous Oxide Toxicity
Oral Clefts
Panic Attacks 

Placental Abruption
Post eclampsia
Potential drug toxicities: methotrexate, anti-epileptics 
Pre eclampsia
Primary Closed Angle Glaucoma 
Prostate Cancer 
Pulmonary Embolism 
Retinal Vascular Occlusive Disease
Spina bifida
Tetralogy of Fallot
Tight Anal Sphincters
Thyroid disease
Tongue Tie
Vaccine Injury
Vascular Dementia

Part of this list and the links taken from, which also has lots of information and resources for further research on MTHFR.  Other parts and links are from

My neurologist (I have a neurologist!) said that because of the possibility of Spinocerebellar Ataxia, he will refer me to a genetic counselor. I am brushing up on my research on MTHFR because I have wanted to do the testing for awhile, and here we have the perfect opportunity. My mother is sending me a copy of her medical records, which hopefully will show her own genetic report, though if they were only testing for SCA, I am not sure we'd see anything about MTHFR. But wow, would I love to see her (and my brothers) tested for it. 

Testing for MTHFR (genetic counselors can also order the tests and insurance will pay for it)

If the mutation is discovered, additional tests to be considered.

The brilliant part is that in this wealth of information on MTHFR (and I am only beginning to scratch the surface, so expect more of these types of posts from me as I dig deeper), there is supplementation and other wonderfully proactive ways to live healthily with the mutations. Gluten and dairy free diets are of utmost importance, and movement of body, fresh air, Vitamin D/sunshine. And the supplementation can be tailored depending on the particular mutation and its coupling with other genetics. 

Here is a fun mind map of MTHFR

And now, down this rabbit hole I go! Whee!

1 comment:

  1. Very interesting! I don't have a lot of time to read online these days, but I or one of my kids or blood relatives have a number of those things. My brother-in-law has a congenital heart defect (that he had surgery for) and my mother-in-law has at least one blood clotting disorder. Hm.


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