|MTHFR Mutation. Photo from MTHFR.net|
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.
MTHFR.net 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 ):
Amyotrophic lateral sclerosis (ALS)
Chronic Fatigue Syndrome
Congenital Heart Defects
Connective Tissue Disease
Deep Venous Thrombosis
Epstein Barr Virus
Esophageal Squamous cell carcinoma
Heavy metal toxicity
Idiopathic male infertility
Increased bone fracture risk in post-menopausal women
Infant depression via epigenetic processes caused by maternal depression
Insulin resistant diabetes
Migraines with aura
Multiple Chemical Sensitivity
Myocardial Infarction (Heart Attack)
Neural tube defects
Nitrous Oxide Toxicity
Potential drug toxicities: methotrexate, anti-epileptics
Primary Closed Angle Glaucoma
Retinal Vascular Occlusive Disease
Tetralogy of Fallot
Tight Anal Sphincters
Part of this list and the links taken from mthfrsupport.com, which also has lots of information and resources for further research on MTHFR. Other parts and links are from MTHFR.net.
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!