When the detox button is switched off
(View the original article here, just turn to pages 44-49)
If you’re plagued by illness and not getting better no matter what you try, look to your genes and specifically one not-so-rare mutation that could be making it difficult for your body to detoxify
Jessica Kenward was 21 when she moved from America to Australia. Two months later, she woke up in the middle of the night unable to breathe. She stumbled out of bed, and her roommate dragged her to the bathroom and sprayed water on her, but she blacked out. When she woke up in hospital, the doctors told her she had a pulmonary embolism and concluded that the combination of being a smoker, being on birth control pills and embarking on a long-haul flight led to the blood clot. In the future, they told her, if she wanted to get pregnant, in addition to stopping her birth control and quitting smoking, she would also need to have regular injections with a blood thinner to avoid risking another clot.
Eight years later, when Jessica and her husband were ready to start a family, they were lucky enough to be under the care of a perinatologist who urged Jessica to get tested for a genetic mutation of the gene encoding MTHFR (methylenetetrahydrofolate reductase), which impacts the body’s ability to cope with toxins of all varieties (see box, page x). The test revealed that Jessica was homozygous (carried two copies of the gene) for the C667T variant of MTHFR. C667T is a single nucleotide polymorphism (SNP)—a common type of mutation where a substitution occurs at an isolated point in the DNA sequence of a gene without affecting the neighboring genetic code. This SNP represents a tweak to the genetic recipe that the body uses to build the MTHFR enzyme, resulting in different ‘variants’ of this important protein. In a person like Jessica, who carries two faulty copies of the gene, the activity of MTHFR may be as little as half that in a person with two ‘good’ copies of the gene.1 And low MTHFR activity translates to a reduced ability to make use of folic acid and clear the body of toxins that enter it—both necessary for a healthy baby. This information offered Jessica the opportunity to learn what she could do to support her body through pregnancy in the healthiest way for her and her baby, and she puts her smooth pregnancy and labour down to the fact that she was armed and prepared beforehand, ensuring she was on the right supplements and following the right lifestyle protocol.
However, when Jessica’s daughter, Ella, turned three, she was diagnosed with juvenile rheumatoid arthritis. The doctors wanted to put Ella on methotrexate, a chemotherapy drug given alongside synthetic folic acid, but Jessica’s research had taught her that this could be toxic for someone with a MTHFR mutation. Not only would Ella’s body not be able to efficiently process the extra folic acid, it also couldn’t detoxify from the medication. So instead they tried to live a lifestyle that limited their exposure to toxins, and sought the help of a functional medicine doctor with knowledge of MTHFR variants. “If I wasn’t a journalist myself,” Jessica says, “perhaps I wouldn’t have known to research as much as I did, but our knowledge of our genes and our subsequent altered lifestyle is what keeps Ella healthy every day. She’s now eight years old and hasn’t had a flare-up for a long time.”
Jessica’s situation is more common than you think. More than half of the participants in an American study had one copy of the C667T mutation (heterozygous), and more than one in 10 had two copies of the mutation (homozygous),2 all the more reason that the widespread medical ignorance about this mutation is astonishing. Nevertheless, a number of forward-thinking integrative physicians have recognized the importance of genetic testing. Dr Ben Lynch, author and naturopathic doctor, Dr Rodney Russell of the Natural Healing Centre, and Dr Amy Yasko, an expert in DNA/RNA-based diagnostics with a PhD in molecular biology/immunology and now a naturopathic doctor specializing in autism, are just a few of the medical professionals dedicated to understanding MTHFR polymorphisms, and helping people live healthier lives in spite of their genes.
What is MTHFR?
The National Institutes of Health website provides a succinct explanation of MTHFR’s critical function in the body: “This enzyme plays a role in processing amino acids, the building blocks of proteins. MTHFR is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.”
MTHFR converts one form of folate into another in a chemical reaction called methylation, which is why people with MTHFR mutations have trouble processing folic acid. But the broader significance of MTHFR lies in the fact that the methylated folate it produces is the precursor to the amino acid methionine. Methionine can be converted to glutathione, an extremely important antioxidant, so any slow-down in the production of methionine affects the body’s ability to detoxify. Furthermore, methionine is used in other methylation reactions that take place all over the body, so a shortage in this amino acid will cause the entire methylation cycle to operate sub-optimally (see box, page x).
Autoimmune diseases, heart disease, strokes, migraines, fibromyalgia, miscarriages, neurological or behavioural symptoms and developmental delays have all been linked with MTHFR variants.
A study carried out at the Shiraz University of Medical Sciences in Iran found that people with MTHFR mutations were at a higher risk of developing the autoimmune disease multiple sclerosis compared to the rest of the population.1
In small case study, doctors at Mount Sinai Medical Center in New York, studied three pregnant women with MTHFR C677T who had histories of spontaneous foetal loss and concluded that there is evidence to support the relationship between MTHFR C677T and recurrent miscarriage. The researchers gave these women the anticoagulant drug heparin, after which two gave birth to healthy babies and the third had successfully reached the third trimester at the time of publication. Because the mutation leaves women at higher risk for blood clots and related complications, as in Jessica’s story, anticoagulation therapy during pregnancy is one way to support these pregnancies to term.2
Some healthcare professionals who are well-versed in epigenetics—the study of environmental influences on gene expression—such as Dr Lynch, believe that this SNP may be one of the reasons why some children react to vaccines when others don’t. In his book, Dirty Genes, Dr Lynch claims that MTHFR polymorphisms render children’s bodies less capable of processing and detoxifying from the adjuvants like aluminium that come hand-in-hand with the viruses in the vaccines.
New research into the effects of MTHFR mutation could offer one explanation for the recent rise in autism rates. A review article conducted by researchers at VBS Purvanchal University in Jaunpur, India, examined 13 studies investigating the link between the MTHFR C677T mutation and autism involving more than 9,000 children and found that having the gene increased risk of developing autism between 1.5 to 1.8 times. The researchers concluded that the results strongly suggested a significant association.3
Another review of 37 studies also reported a link between MTHFR mutation and Down syndrome.4
We are exposed to a great deal more synthetic folic acid (in fortified foods as well as other sources) than we were 30 years ago. But pregnant women who may not be aware that they have these SNPs are less able to efficiently methylate certain natural forms of folate, as well as the synthetic folic acid prescribed to them by their doctors—a particular concern since folate is vital to foetal development.
MTHFR and cancer
There is some preliminary evidence MTHFR mutations may even predispose some people to cancer. The results of a study on MTHFR mutations in women with breast cancer concluded that the presence of the MTHFR 677T variant alongside one of the BRCA1 or BCRA2 mutations already linked to breast cancer could make women four times more likely to get breast cancer than those with a BRCA gene mutation alone.5
The first links with cancer aren’t surprising since methylation is a fundamental chemical reaction in the body, critical to so many processes in the cell: cell division, DNA transcription (the conversion of genes into proteins) and repair, metabolism, enzyme activity and more (see box, page xx). But we are only beginning to understand how a reduced ability to methylate can seriously damage our health and how to protect ourselves from illnesses we may be genetically predisposed to—which is why a better understanding of MTHFR polymorphisms, from doctors and patients alike, could help many of us counteract hereditary predispositions to disease.
How to cope with genetic variations
A private doctor can arrange genetic screening. If you test positive for a mutation in MTHFR (the two most common mutations are C677T and A1298C), or any of the growing list of other polymorphisms that may have clinical importance, it does not mean that the activity of the gene is completely ‘off’. It simply means that it functions at a lower level.
Lifestyle changes can greatly improve your chances of avoiding the onset of illness triggered by these polymorphisms. According to Dr Lynch, taking certain precautions in our diet and daily lives can lower the toxic load and help the entire methylation cycle to function better.
As the body’s ability to detoxify properly is impaired, reducing exposure to toxicity is paramount. You can take measures to improve the food you eat, the water you drink and the lifestyle you lead, aiding the body in its struggles to methylate—yet more evidence that genes are not necessarily destiny.
Box 1: Helping the body to detoxify
Most people with MTHFR mutations are low in methylfolate and B12. Seek advice from a functional medicine doctor or other healthcare practitioner who is well-versed in MTHFR variations to determine specific supplementation protocols.
Here’s what else to do:
- Limit intake of folic acid in fortified foods. Synthetic folic acid can be toxic and difficult to eliminate for people with certain MTHFR polymorphisms.
- Limit or stop taking supplements or drugs with folic acid in them. (Check with your doctor before stopping any drugs.)
- Avoid drugs such as methotrexate or the birth control pill, which block folate. A study conducted by researchers at Beijing Hospital, China, and the University of Ferrara, in Italy , concluded that there is an increased risk of severe toxicity from methotrexate in people with MTHFR gene polymorphisms.1
- If you are pregnant or planning a pregnancy, find an obstetrician with an understanding of MTHFR variations. The wrong advice (such as being told to take synthetic folic acid in higher doses) could possibly lead to miscarriage, Down syndrome or other birth defects.
- Follow the usual recommendations for a healthy living: consume organic, wholefood, fresh-cooked diet and exercise regularly. Consider cutting down or eliminating gluten, dairy products and sugar, which generally increase inflammation in the body.
- Soak in Epsom salt baths a few times a week, as magnesium helps draw toxins from the body.
- Drink green juices a few times a week for natural sources of folate in leafy green vegetables that don’t require MTHFR to be assimilated.
- Only ever eat pasture-reared, grass-fed, antibiotic and hormone-free meat. The antibiotics, hormones and steroids in non-organic animals reared for meat will accumulate and cannot be readily detoxified from the body in people with the MTHFR variants mentioned in the main article.
- Drink plenty of clean, fluoride- and chlorine-free, filtered water each day.
- Eliminate caffeine.
- Stop smoking.
- Find a dentist with experience removing mercury amalgam fillings and root canals, according to a safe protocol.
- Avoid plastic where possible, especially in contact with food and drink, and avoid heating plastic.
- Encourage family members to get tested.
Ref for box:
- Pharmacogenomics 2016; 17(9): 1005-17
Flipping the genetic switch
Methylation is a chemical reaction that occurs in every cell and tissue in your body. It is the process of adding a methyl group—a chemical structure made of one carbon and three hydrogen atoms—to another molecule. Since methyl groups are chemically inert, adding them to a protein, snippet of DNA or other molecule through the process of methylation changes how that compound reacts with other substances in the body, thus affecting how it functions. Methylation is often described as like flipping a switch to turn a gene or protein ‘on’ or ‘off’.
A key molecule in all methylation reactions happening throughout the body is methionine—produced thanks to MTHFR. In addition to serving as a building block for proteins, this amino acid serves as a ‘methyl donor’—the source of the methyl groups used in methylation throughout the body. Without enough methionine, this critical switch can’t work optimally.
Box 3: A toxic load build-up
The Methionine is also necessary to form glutathione—one of the major antioxidants in the body. Since MTHFR mutations slow down methionine production, they also affect glutathione synthesis, so people with mutations that compromise MTHFR or certain other enzymes may not be producing enough glutathione. Glutathione is responsible for protecting your body from the free radicals created as a normal by-product of cellular activity and also the toxins in your environment (such as heavy metals). The more toxicity to which you are exposed, the more glutathione you use, and the less glutathione your body is able to make, the more your toxic load could increase.
Lauren Vaknine, with additional reporting by Emilie Crosier
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