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MTHFR Decoded

MTHFR DECODED

February 1st, 2016

The success of the Human Genome Project has opened the possibility to test for disease on a whole new level. Our body has over 50 trillion cells. Each cell contains DNA, i.e the instruction manual, to decode what that cell should do. Short segments of DNA are called genes which code for specific proteins that instruct our body’s organs and tissues. Humans have about 20,000 genes.

Within our genes we also have genetic mutations called SNPs (pronounced "snips"), or single nucleopeptide polymorphisms. This is when certain alleles in our genes get switched and make an altered protein which can create havoc on the body. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. SNPs occur normally throughout a person’s DNA and most have no effect on health or development.

What is MTHFR?

The MTHFR gene stands for methylenetetrahydrofolate reductase and is one of the most popular SNPs in our population. Most people have two copies - one from Mom, one from Dad.

The two most common mutations are C677T and A1298C, which denotes the placement of the mutation on the gene. Depending on whether you are homozygous (double mutation) or heterozygous (single mutation) determines how aggressive the protocol is to counteract the mutation.

Why is it important?

You are not alone. Up to 40-70% of the population have this genetic mutation. This gene controls how efficient the body's methylation of folic acid and other B vitamins. It’s important because methyl-folate plays a role in almost every aspect of the body. People with a mutation have a reduced ability to convert folic acid to it’s activated or methylated form. Researchers have linked it to an increased susceptibility of heart disease, depression, colon cancer, Alzheimer’s, stroke, autoimmune disease, and recurrent miscarriage.

A mutation is associated with higher levels of homocysteine, which is a marker for inflammation and heart disease. Elevated levels of homocysteine also contribute to nutrient deficiencies in vitamins folate, B6, and B12.

Methylation 101

Methylation is simply detoxification and is involved in almost every system of the body.

  • Helps your liver detox fats
  • Keeps inflammation in check
  • Assists neurotransmitters that influence mood, behavior, and sleep
  • Cleans heavy metals and toxins from your body
  • Repairs your cells and tissues

Should I get tested?

The cost of genetic testing has plummeted in recent years. The price range can be from $50-$300. Once you know your status, it never has be tested again. If you do get tested, make sure your physician is testing for both of the mutations, C677T and A1298C. 

What happens if I am positive?

If your doctor determines you have a genetic mutation, consult them for a personalized supplement plan. Also, there are other detoxification and methylation genes that you may need to get tested.

Every individual with a mutation can benefit from these general guidelines.

  1. Repair your gut. If you have any signs of leaky gut syndrome or yeast overgrowth, you probably aren’t absorbing nutrients properly.

  2. Check your supplements. You should be taking a methylated form of folic acid.

  3. Get rid of mercury. If you have any mercury amalgams, check your area for a biologically trained dentist to get them removed.

  4. Eat more greens. Pile your plate with leafy greens like spinach and swiss chard to get natural sources of folate.

  5. Get your homocysteine measured. You could also have a deficiency in B12.

Want to learn more? Check out theses resources.

  1. Dr. Ben Lynch
  2. Dr. Amy Yasko
  3. MTHFR.net
Originally posted at Alliance Integrative Medicine.