Genomics & MTHFR

Many people have been seeking to understand the methylation changes that may be involved when they learn about the effects of an epigenetics of 'MTHFR' single nuclear polymorphisms, (SNPs). MTHFR stands for MethyleneTetrahydrofolate Reductase which is the enzyme coded by the MTHFR gene and is related to  optimal use of B-12 and folic acid. Decreased enzyme activity is associated with elevated homocysteine, increased cardiovascular disease risk, midline developmental disorders, neurotransmitter imbalances, Alzheimers disease, Parkinson's Disease, Chronic Fatigue/ME, Autism and other neurochemical and immune disorders. However, drawing conclusions from MTHFR and a handful of other SNPs is as erroneous as the blind men and the elephant metaphor

Most of the interest in what is happening with our genes has been spurred by the popularity of Ray Kurzweil's Singulariy University, Dr. Peter Diamandis' and Craig Venter's Human Genomic Inc and innovative research by commercial and pharmaceutical companies and university medical schools and non-profit organisations such as Aubrey de Grey's Sens Foundation. Novel treatments of chronic disease and age reversal involve stem cell therapies and telomere lengthening technologies with rejuvenation biotechnology and make regular news headlines. Research has revealed that there are brain stem cells that are massively activated immediately after a stroke and migrate selectively to damaged areas. Clinical trials have shown successful regeneration of kidneys, heart muscle, disc regeneration for chronic back pain and help for regeneration of brain tissue in Parkinson's disease. 

Political and public acceptance still limits funding for development of these rejuvenation biotechnologies and for other conditions. To complicate matters due to accelerating effects of increasing global pollution improvements in mortality rates to every 7-8 years is being out paced by the rate of occurrence of dementia which is doubling every 5 years. Also there is an expanding gap between the elite who will enjoy increasingly healthy lifespan and the rest of the world.

Altered gene expression can accelerate, cause, or be caused by accumulation of oxidative damage of metabolic processes. Unavoidable environmental pollutants, the inflammation of obesity and chronic diseases are the main contributors of damage to the genes of our stem cells and the repair mechanisms of the cells of the various tissues of the body. Just as these SNPs have been influenced negatively, they can also be influenced positively by strategically providing biological cofactors, vitamins, minerals and antioxidants to support the enzymes that are needed for your metabolic pathways to work optimally. People are beginning to realise that living longer with restored health and youthful energy and capability is possible and are taking nutritional and lifestyle measures to help. Some of the main epigenetic changes that can even be passed on to our offspring, turning on or silencing genes called SNPs can be analysed from your 23andMe raw data.
Every day scientific research continues to uncover more secrets of biology.  Research has shown that exposure to air pollution which accelerates ageing of the arteries and formation of brain amyloid. The key to being able to take advantage of innovative rejuvenation technology in the future is to stay healthy as long as possible. People are realising the urgency to stay alive and healthy as long as possible in order to obtain these rejuvenating treatments as they become available. For instance, they use air purifiers at home and at work, drink spring water and take supplements advised by naturopaths and nutritionists, use osteopathy and Chinese Medicine. 

Genetic testing has become easily accessible to the public. However, assessing the massive amount of data obtained is a daunting task without artificial intelligence and computational approaches.  Many people resort to laboratory company interpretations in order to make sense of possible epigenetic changes. Some of these commercial testing companies are Genova, Dr's Data, Spectracell, and Pathway Genomics provide standardised reports based on SNP analysis.  

The Naturopathic physicians who use the holistic scientific approach to reveal nutritional strategies for longevity are getting educated in Nutrigenomics and Generative Medicine, and are better prepared to analyse your data. The advantage is innovative software designed to make computational analysis based on naturopathic principles.

Naturopathic physicians using the computational power of Generative Medicine to sort out the expanding knowledge of the epigenetic effects of diet and environment are helping people make strategic changes to stay healthy longer. GenoTyping and Genome Mapping Reports provide information obtained from your genome. This holistic approach integrates clinical findings, laboratory and genetic testing to impart life-saving information if the recipient has sufficient time to act on it. Prescribed natural approaches such as personalised nutrition, supplemental and lifestyle adjustments have shown to be effective in improving quality of life. 

When some people try to make changes to their supplementation such as for cholesterol reduction, or use other supplements for prevention of heart disease, they might not feel any better or may even get worse. Some people try to correct methylation defects by supplementing with B-12 and folic acid. They may develop the following symptoms: 
  • increased sensitivity to alcohol
  • hyperexcitability such as insomnia, anxiety or rage
Although the problem starts as polymorphisms in methylation, catecholamine production, degradation, detoxification pathways and mitochondrial function may become overwhelmed. Problems in metabolism, or enzymes functioning may occur in the detoxification pathways such as cystathionine beta synthase (CBS, sulfuronidation), superoxide dismutase (SOD, poor control of free radical formation), betaine homocysteine methyltransferase, (BHMT, backup pathways to the homocysteine pathway). Other processes may be affected, including acetylation, histamine modulation, oxidative phosphorylation in mitochondria, and elimination systems such as lungs, kidneys, gastrointestinal tract and skin. Supporting organs should be assessed including thyroid and adrenals; Vitamin D, hormone levels, immunoglobulins, antioxidants, DNA Adducts may need to be assessed. Before embarking on extravagant testing and supplementation without evidence it is best to have genetic testing for these polymorphisms, which can now be obtained for a reasonable cost.

Our genes interact with our diet and environment. These changes are called epigenetic changes, modifying gene expression independent of the genetic code. Methylation is often disturbed by various mechanisms: nutrient deficit, medications, environmental toxins, genetic mutations, inflammation, hormones, oxidative stress, oxalic acid buildup, glutamine buildup, methyl trapping, high dose vitamin intake and others.

Metabolic pathways are regulated by enzymes: proteins that are coded by DNA and modified by the golgi apparatus and the endoplasmic reticulum inside cells by a number of processes, primarily by glycosylation. Environmental factors heavily influence the performance of the metabolic pathways operating inside the cells.

Take advantage of natural approaches for health and longevity

Although supplementing with natural medicines will not fundamentally reverse ageing cells, research is revealing that some age-related damage can be minimised and thereby slow the ageing process enough to be able to use some of the rejuvenating biotechnologies that are becoming available.  

How to begin and key approaches to optimise health and prevention chronic illness:
  • Set a foundation of nutrition and strategic supplemental support: In addition to DNA testing, an assessment of your genetic archetype and eating  a diet designed to mitigate your genetic risk factors is necessary for permanent recovery. The right food plan, exercise, stress management programme along with avoidance of environmental pollutants form the basis for success. A personalised dietary and lifestyle book in a pdf is generated automatically once your genetic archetype has been obtained. Most people find that gradual lifestyle changes and food substitutions is the most effective way to begin.
  • Rebalancing methylation by removing blockages, reducing workload of downstream pathways and promoting tissue repair nutritionally is rarely researched beyond the scope of naturopathic medicine. 
    • Screening for collateral single nucleotide polymorphisms, or SNPs, using 23andMe (use the following link for purchasing a genome analysis from the UK or from the US for a 20% discount and priority sample handling). For some SNPs, the DNA test from can give a better assessment, or even a combination of both (we can merge multiple raw data files from the same individual). For advice on which test is best you can schedule a naturopathic consultation.
    • Arrange for a consultation appointment to obtain the analysis report of your 23andMe raw data (£600, or $700 pre-paid), using the Opus23™ genomic analysis software. Provide a list of 5 problems or main concerns and list short term and long term goals. Plan an appointment that allows 5-7 days for the practitioner to analyse your data.
    • Email a photo done in daylight of yourself, a tongue picture and any areas of concern, e.g. rashes, swollen joints, hair loss, etc.
    • Email any laboratory reports and doctor summaries at least one week prior to your consultation.
    • During your 90-minute appointment a focused intake and review of symptoms is done to further personalise your dietary and supplementation programme and a review of findings of the main SNPs and treatment strategy for addressing your concerns is provided. After the appointment a summary be emailed that will include the analysis and a supplementation schedule to address inappropriate SNPs. (The supplement programme usually starts with test doses for a few weeks and gradually increases to therapeutic doses for a two to three month period to correct deficiencies and support detoxification pathway removal of toxins and heavy metals and finally maintenance dosing.) 
    • Successful changes should occur slowly to minimise aggravation of symptoms. Follow-up appointments help to guide the supplement dosing process.
    • Rebalancing normal physiological functions with nutritionally safe personalised herbal formulas are often key to jump starting the process providing additional help for symptoms of chronic illnesses.
Note About Cancer
Please note that a hereditary mutation is a major factor in only 5-10% of all cancers. Most cancers are caused by changes in DNA expression that happens during the person's lifetime. DNA mutations and polymorphisms do not definitively result in disease because environmental factors are likely to modulate the genetic risk considerably. Some changes to the DNA itself are considered acquired mutations that can be caused by environmental exposure to radiation or toxins. For most acquired mutations however no specific cause has been found. Improving the ability of the body to handle toxins and inflammation is key to improving immune function in cancer.