MTHFR

MTHFR Mutation. Photo from MTHFR.net

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.


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 ):

Addictions: smoking, drugs, alcohol

Alzheimers 
Amyotrophic lateral sclerosis (ALS)
Anemia
Anxiety
Atherosclerosis
Arthritis
Autism
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 
Diabetes
Down syndrome
Deep Venous Thrombosis
Epilepsy
Epstein Barr Virus
Esophageal Squamous cell carcinoma 
Fibromyalgia 
Glioma
Gastric Cancer
Gluten intolerence 
Heart Murmurs 
Heavy metal toxicity
Hemolytic anemia
High homocysteine 

Homocystinuria
Hunnington's
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 

Leukemia
Low HDL
Lupus
Meniere's Disease
Methotrexate Toxicity
Migraine 
Migraines with aura
Miscarriage
MMA
Multiple Chemical Sensitivity 

Multiple Sclerosis
Myalgic encephalomyelitis  
Myocardial Infarction (Heart Attack)
Neuralgia
Neural tube defects 
Nitrous Oxide Toxicity

Non Hodgkin Lymphoma 

Oral Clefts
Panic Attacks 

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


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!