One of the essential roles of MTHFR and 5-MTHF is to aid in the re-conversion of homocysteine into L-methionine. Homocysteine is an oxidized amino acid, one that is derived from L-methionine. In the methylation cycle, homocysteine must convert back into L-methionine. If it does not re-convert effectively, homocysteine levels may remain elevated, predisposing one towards developing cardiovascular disease and cancer.

The MTHFR gene provides instructions for making an enzyme that plays a role in processing not only folate and B-12, but amino acids, the building blocks of protein. The enzyme is necessary to utilize antioxidants and assist the liver to process fats. Methionine helps with depression and inflammation. It also helps convert estradiol (E2) into estriol (E3). Methionine is converted in your liver into SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce the breakdown of your brain chemicals serotonin, dopamine, and melatonin, and is involved in the growth, repair, and maintenance of your cells. As stated, MTHFR is important for chemical reactions involving forms of the B-vitamin folate and B-12. The gene mutation can also block the manufacture of glutathione preventing detoxification.

Mutations in MTHFR, and deficiencies in 5-MTHF may predispose a fetus towards developing neural tube birth defects in utero, such as spina bifida. MTHFR mutations may also be a significant factor in dementia, bi-polar, autism, schizophrenia, colon, breast, and rectal cancer. It is believed that as much as 50% of the population has some type of MTHFR mutation. Some mutations are more serious than others. In the autism research field, Dr. Amy Yasko has not seen an autistic child who did not have one or more MTHFR gene mutations. 

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The type of MTHFR variation you have may lead to a greater susceptibility to certain diseases. For example, the C677T mutations may predispose one towards cardiovascular disease, peripheral neuropathy, and birth defects. A1298C, may lead towards the development of fibromyalgia, schizophrenia, migraines, nerve pain, Parkinson's, chronic fatigue, and dementia. 

 With the MTHFR gene mutation, the symptoms include: mood swings, depression, ADHD, low immune function, B-12 deficiency, and lack of focus and clarity. There is a high association between the gene mutation and Parkinson's Disease, and everyone with Parkinson's should get checked because there are cases where it can be reversed through supplementation of Methylfolate (B-9), Methylcobalamin (B-12), and 5MTHR.

MTHFR QUESTIONS & ANSWERS

I visited a physician who orderd lab tests for me before I learned about the cheek swab, and the physician recommended lab two non-prescription products containing methylated folic acid, methylated B-12, and other special nutrients. He explained how a person with MTHFR mutation cannot absorb non-methylated forms of B-vitamins commonly found in vitamin supplements. "You can be taking a B-Complex thinking you are getting the vitamins you need and be seriously deficient," he said. 

My blood test revealed I was homozygous (inherited the C667T mutation from both parents), deficient in Vitamin D-3, low in dopamine and serotonin, low in T cells, and not adequately absorbing folate and B-12. This explains the mood swings, reactivity, and occasional depression. My T-cells were so low, Dr. Shearer said "I wonder how you are fighting off any virus or infection. MTHFR runs high in Italians."

In three days, I felt like I had a new brain. I couldn't believe the changes. I was happier than usual. I was listening to music and studying art, things I rarely do. I was looking people straight in the eyes when I talked to them. Everyone noticed the change. I called Dr. Shearer and asked: "Can this really be happening so fast?" He said: "Yes, you were not producing happy hormones. Everything will improve."

    The two most common MTHFR mutations are C677T and A1298C.

 Mutation 677- This mutation is most commonly associated with heart disease, heart attack, stroke, blood clots, peripheral neuropathy, anemia, miscarriages, congenital birth defects, and more.

 Mutation 1298 - This mutation is most commonly associated with chronic illnesses, such as depression, fibromyalgia, chronic fatigue syndrome, migraines, IBS (Irritable Bowel Syndrome), Memory loss, Alzheimer's and Dementia, OCD, Bipolar, Schizophrenia, and more.

 Neuropsychiatric & Neurological Conditions: MTHFR mutations have been linked to neuropsychiatric conditions due to the indirect effects of MTHFR activity on the production of serotonin, dopamine and norepinephrine, as well as the potentially toxic effect of hyperhomocysteinemia. Schizophrenia-like syndromes, bipolar disorder, Parkinson's disease, Alzheimer's disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene. In a recent metanalysis, there was a relationship between the C677T mutation and increased susceptibility for depression (Lewis, X.  Molecular Psychiatry. 2006;11, 352-360).

Insomnia, irritability, forgetfulness, endogenous depression, organic psychosis, peripheral neuropathy, myelopathy and restless leg syndrome are all also mentioned in the literature as potentially being influenced by this enzyme deficiency. The MTHFR C677T homozygous genotype has also been associated with an increased risk for migraine in most ethnic groups except for Caucasian populations (Schurks M.. et al. Headache. 2010; 50(4):588-99).

Some studies indicate a connection between the C677T MTHFR mutation and increased risk of autism and ADHD (Liu X. et al. J. Autism Dev Disord. 2011; 41(7):938-44). 

A defective MTHFR enzyme can mean low glutathione, which is your body's chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup (stopthethyroidmadness.com). Having reduced levels of glutathione is associated with many diseases and health conditions including cancer, cystic fibrosis, Parkinson's disease, Alzheimer's disease, hypertension, atherosclerosis, emphysema, asthma, chronic fatigue, fibromyalgia, autism, bipolar disorder, and Multiple Sclerosis. In fact, if you hold up a list of diseases associated with reduced glutathione next to a list of diseases associated with MTHFR, they are almost identical (mthfrliving.com).

Other areas of recent study include the association between MTHFR mutation and epilepsy, Turner's syndrome, infertility and inflammatory bowel disease. With regard to the latter, researchers have reported a 2.7 and 2.8-fold higher risk for Crohn's disease and ulcerative colitis, respectively, in people who are homozygous for the C677T variant (Crott, J. et al. Carcinogenesis. 2004; 22(7): 1019-1025).

You can learn a lot from a simple blood screening for MTHFR mutation at the C677T and A1298C points. Any patient who is positive for any form of MTHF genotype mutation should be counseled on the importance of repleting 5-MTHF. It's usually a good idea to give information about MTHFR testing to other family members who may also carry mutations (MTHFR Mutation: A Missing Piece in the Chronic Disease Puzzle; June 2012).

There is no advantage to waiting until a patient shows signs or symptoms of one of the MTHFR mutation-associated chronic diseases states; if there is a suspected family history or if a patient is not responding as would be expected to your usual therapeutic approaches - test and treat appropriately. What you discover could have big impact on someone's future health (Ibid).

Testing on geographical and ethnic variations of the C677T mutation in 7,130 newborns in 16 areas worldwide revealed the following results: 

 J Med Genet 2003;40:619-625 doi:10.1136/jmg.40.8.619

I know of two people with bipolar disease who radically improved very quickly, another with OCD improved in weeks, depression suffers noticed mood elevation, in other testimonies people with anxiety, poor memory, sleep disorders, and mood swings improved in most cases.

On the label of Methyl Complete is says: Methylation is responsible for 250 biochemical processes in the body, therefore, this formula may assist in maximizing focus, concentration, memory, sleep patterns, mood stability, and immune function. Several woman who have not slept through the night in years, slept all night.

Imagine how many more people can be helped who are suffering with symptoms and diseases and have not made the connection to MTHFR. This week's video (below) is a timely message from Dr. Shearer that he presented at last year's Health and Healing Crusade.

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