• How Functional Labs & Genomic Wellness Testing

    Help Tailor Your Nutrient & Lifestyle Choices
    to Support Optimal Health & Detoxification

Exploring Genomics & Genomic Potentials Through Dietary & Lifestyle Choices

On this page we will explore how Genomics (Epigenetics and Nutrigenomics) directly affects our health, and capacity to detoxify efficiently. 

We will also explore why some people are prone to storing toxins, compared to others who appear to get away with abusing their body and health!

Then we’ll look at how you can harness your genomic potential through dietary and lifestyle choices to support recovery and avoid poor health. This is especially true if you have inherited a large number of gene-enzyme deletions (SNPs) presenting in your Genomic Blueprint which predispose you to chronic health issues such as: Diabetes, Fibromyalgia, Chronic Fatigue Syndrome, ME, Alzheimer’s, Myocarditis, Autism Spectrum disorders, and so on.  

The fact is, our human body is wired like an energy circuit board. When metabolic pathways function optimally due to optimum nutrient intake and avoidance of environmental toxicants, then mitochondrial performance and energy levels remain optimal, and your body functions properly. All is well! 

However, health problems arise from poor food choices, unhealthy lifestyle, and environmental pollution, which all cause cell energy to decline, cell damage and then cell death. Once the cells are under threat, the Cell Danger Response kicks in as a self-protective mechanism, causing our cells to remain low in energy, sometimes for a long time. And, if the Cell Danger Response drags on for too long, our body will then become susceptible to many health issues, such as sleep disorders, pain syndromes, and hormone and mental health imbalances and every other chronic condition known to man.

Work With A Trained Genomics Practitioner

What Is The Cell Danger Response?

This is a term originally coined by Dr Robert Naviaux, who has written about this mechanism extensively.  What the Cell Danger Response describes is the mechanism by which our mitochondria (our cell battery and natural energy source) detects danger in the form of a pathogen, such as a virus, bacteria, parasite, mould and environmental chemical / toxin.  The danger could even be mental stress, emotional stress, biochemical stress, or electrical stress from toxic EMFs.  

So, your body will sense and detect the danger from within the mitochondrial bilipid layer.  Furthermore, the long-term consumption of rancid toxic fats causes the lipid bilayer to become inflexible and stiff over time. So much so, that eventually even our natural metabolic by-products ‘perceived by our cells as toxicity’ are no longer able to get out from the cells! This metabolic waste, otherwise known as Reactive Oxygen Species (superoxide, hydrogen peroxide etc), is unable to exit our cells subsequently instructs cell death (apoptosis). Apoptosis is a self protective mechanism so that cells do not become cancerous.

There is a second piece to this too.  Along this journey our cells can also trigger the Cell Danger Response (CDR) in order to prevent viruses that we have acquired (either naturally or by force) from thriving on our mitochondrial energy too. Viruses naturally hijack our mitochondria for their own survival game and gains. Our cells in their wisdom sense this, and so lower the energy output to starve the virus.  However, the job is not always done adequately – usually due to long term stress resulting in lowered immunity, depleted nutrient resources and so on. We can then be left with persistent pathogenic loading whilst the CDR remains switched on.  This is other-wise known as C.F.S, M.E, and Long-COVID.  

How Genomic Wellness Testing Supports Your Health & Detoxification To Return To Health

As we have established, Genomics is the study of your genome and how it interacts with the environment and your lifestyle choices. Genomics tells us why some people are more likely to struggle with the elimination of environmental toxins and metabolic wastes, and why these types go on to develop chronic diseases such as MCAS, Myocarditis, Alzheimer’s, Chronic Fatigue Syndrome, Diabetes and Cancer.  Genomics provides insight into our personality traits, dietary trends, requirements for higher doses of some nutrients, metabolic patterns, and fitness traits.  Genomics analyses many traits and predispositions whilst providing insight into why some diets and lifestyle choices will work better for you, than others. 

At DetoxNutrition.com we use two styles of Genomic Testing and Genomic Reporting to support your health, detoxification and wellness, whether you are seeking optimal health or recovery from a serious disease.  These two styles of testing can be used separately and together depending on your budget and whether or not you choose to work with a trained Genomics Practitioner. 

Both styles of reporting provide clear and concise information to help support a tailored lifestyle, diet, and supplement regime, all of which are likely to significantly improve your health.

However, the reports that DetoxNutrition.com can generate from your 23&Me or Ancestry gene testing are much more user friendly for the layperson than the SmartDNA option. 

The SmartDNA option is a more advanced form of Genomic Profile, which is use-friendly when working with a trained practitioner.

DetoxNutrition Delivers Two Types of Genomic Wellness Reports

Work With A Trained Genomics Practitioner

Self Decode

Self Decode is a genomic service that utilises raw DNA files such as Ancestry and 23&Me, to analyse genetic variants. The system produces numerous reports in a stunningly easy-to-read format.  All reports are categorised by Health subject, are in depth and user-friendly for those who have already invested in Ancestry and 23&Me raw data testing which are typically very limited, and impossible to make sense of on their own. 

Our Genomic Wellness Reports delivered from Self Decode software considers an overwhelming number of SNPs that will define your genomic health risks and optimum wellness profile – whilst offering lifestyle, diet, and supplement recommendations to counteract genomic predispositions. 

To use Self Decode, you will need to upload raw data from either 23&Me or Ancestry.

It is not necessary to work with a Genomics Practitioner to read these reports.  

Work With A Trained Genomics Practitioner

SmartDNA

For those who have not yet completed a 23&Me or Ancestry raw data report, this single swab test covers over 160 DNA variations in a single test. The SmartDNA Genomic Wellness Test is the most affordable, scientifically up to date and comprehensive analysis that DetoxNutrition.com has come across in over a decade of studying Genomics profiling.  It delivers a number of rs IDs per gene (see below) in a no-nonsense practical format. Less is more with this test and report.  It’s an ideal entry into genomic testing when working with a knowledgeable and experienced Genomics Wellness practitioner toward your personalised optimal wellness programme. 

  • SmartDNA test covers 160 DNA variations
  • It’s comparatively affordable
  • It’s scientifically up to date
  • It provides rich data with clear actionable steps to counteract poor health potentials

Genomics 101

Some background and Genomics in context.  Genomic variations across individuals occur through changes in the individual nucleotides within the gene.  This is how we can all have the same genes but different expressions of those genes. And these are what are called the Single Nucleotide Polymorphisms (or SNPs).   

SNPs can be expressed as either a substitution, or an addition, or a deletion of the ‘normal’ one.  Any of these variations can can theoretically cause a gene to speed up (upregulate) or slow down (downregulate). But it’s usually the deletions that cause a reduction in expression in the context of nutrigenomics. 

It’s also worth knowing that each gene contains many different Single Nucleotide Polymorphisms (SNPs) because it contains multiple nucleotides within its string meaning there is potential for more than one enzyme deletion per gene.  Each SNP has a unique ID number (rs ID) because clearly the gene name alone isn’t enough to identify it.

The ‘rs ID’ numbers describe the exact positioning of the enzyme variation along the gene. You will read about some of these SNP IDs within the context of detoxification and health predispositions below.  For this reason, I wanted to give you a little background on the language, rather than throwing you in the deep end!

  • Because we have two copies of every gene, one from each parent, there are two results for every SNP – these are called the SNP alleles, represented by using the first letter of the protein name. A for Adenine, T for Thymine, C for Cytosine and G for Guanine.  So, whilst genes themselves are relatively stable, the base pairs (alleles) within them can vary significantly. 
  • Furthermore, variants occur throughout the genomic string, as substitutes, deletions, insertions and inversions.  
  • We look for combinations of SNPs within a genomic profile to better understand a person’s unique biochemistry and biological pathway functioning. 

Nutrigenomics is a branch of genomics that focuses on how diet and lifestyle can alter gene function and expression.  It also focuses on the key genetic differences can affect a person’s bio-individualised requirement for macro and micro-nutrients (vitamins and minerals), and so on.  Your SNPs will be directly influenced by your nutritional choices, which in turn directly affects your capacity for optimal or sub-optimal detoxification.

Genomic Fitness Requires Knowing Your Genomic Traits

Personality Traits

Genomics gives you the knowledge to know yourself better.  Often our personality traits have more to do with Genomics than learned behaviour. Do you have the tendency to worry?  Do you have the tendency get anxious?  Do you have the tendency to get angry?  Do you have the tendency to take the bull by its horns, fearlessly! 

Discover how your DNA might be impacting your personality. 

Diet & Nutrition Insights

Your genes affect your nutritional needs and dietary sensitivities: From carbohydrate sensitivity to lactose and gluten intolerance; from vitamin C requirement to Beta-Carotene conversions to Vitamin A to B-Vitamin requirement and so much more. Without this information you continue to guess what your body needs, or even avoid foods that you should be eating. 

Genomic Fitness

Genomics can indicate which physical exercise might work best for your body.  It can also indicate whether you are more likely to be an early bird or night owl.

GENOMIC TRAIT POTENTIALS

Problem Solving
Happiness
Irritability
Risk-Taking
Sweet Tooth
Extraversion
Neuroticism
Openness to Experience
Conscientiousness
Hunger
Caffeine-Related Anxiety
Agreeableness
Snoring

Power
Nervousness
Memory Performance
Sleep Duration
Sleep Quality
Response to Caffeine
Cognitive Function
Alcohol Sensitivity
Early Bird or Night Owl?
Bitter Taste Sensitivity
Response to Stress
Response to Carbs
Lactose Intolerance

Functional Testing, When Paired With Genomics

How Functional Testing When Paired With Genomic Wellness Testing Supports Your Health & Detoxification To Return To Health

Organic acid testing (OAT) is one of the most popular tests amongst functional medicine practitioners.  It is a urine-based test measuring metabolites. Measuring urine metabolites can be compared to performing an emission test on your car. For cars, the exhaust fumes are the byproduct of fuel combustion.  The composition can tell a garage how efficiently the engine burns fuel.  In the same way, the OAT tells a detailed story about our metabolism, providing a wealth of information about the body’s functionality and how efficiently our organs and systems are performing. A defect in a particular pathway can result in either accumulation or lowered levels of its byproducts. Thus, measuring the levels of these markers can help to identify which metabolic process is blocked or compromised.

It can be used to identify possible nutrient deficiencies, gut dysbiosis, and more.  It also provides an evidence based profile that accurately reflects detoxification functionality in response to Genomic predispositions, dietary and lifestyle choices.

Because urinary metabolites offer a snap-shot in time, ideally the test should be repeated in 90 days. Each test offers a comprehensive snapshot of your overall health with 76 its markers.  

It provides an accurate evaluation of intestinal yeast and bacteria. Abnormally high levels of these microorganisms can cause a range of issues, from behaviour disorders, hyperactivity, movement disorders, fatigue and immune function. Many people with chronic illnesses and neurological disorders often excrete several abnormal organic acids within their urine. The OAT test we use includes markers for vitamin and mineral levels, oxidates stress, neurotransmitters and is the ONLY OAT to include markers for oxalates too, which are highly concentrated and correlated with many chronic illnesses.  

10 REASONS TO TEST

  1. Inborn errors of metabolism
  2. B-vitamin deficiencies
  3. Gut dysbiosis
  4. Impaired fatty acid metabolism
  5. Ketosis or poor carbohydrate metabolism
  6. Neurotransmitter metabolism
  7. Mitochondrial dysfunction
  8. Oxidative stress
  9. Poor detoxification 
  10. Inflammation
OAT Product Page

By pairing our Genomic Wellness Testing with our choice of Organic Acid Testing you are engaging in what we believe to be the most robust wellness strategy available when used with an experienced practitioner who knows how to translate the markers and tailor recommendations.  When engaging in repeat Organic Acid Testing you are able to track changes, putting you at the helm of your wellness journey.

Other Functional testing may also be recommended for tracking changes, including the analysis of your bloodwork through a Functional lens, heavy metal metabolites tracked through repeat urine collections paired with DMSA, mycotoxin testing (MycoTox), GPL-TOX and environmental toxin testing (ENVIROtox).  However, Functional testing can become extremely expensive, so to be mindful of cost, we recommend Genomic Wellness Testing with our choice of Organic Acid Testing as the #1 paired choice of tests to get you started.

3 Examples Of Where Genomics & The Organic Acids Test Can Identify Disease

Pain Syndromes, Oxalates & Genomics

What do thyroid issues, bone spurs, osteo-arthritis, kidney and gallstones, inflammation and tissue damage, anemia, higher than average toxin loading, decreased immunity, and peripheral neuropathy all have in common?  They all involve high oxalate levels and poor oxalate clearance.

So what are oxalates? 

Oxalates are used by plants as a defence mechanism.  Visually, under a microscope oxalates look like little shards of glass. Their structure and formation depends on what the oxalic acid binds to, which can be a heavy metal or a mineral.  The variety of different shapes is telling of the range of minerals that it binds to, resulting in distinctive formations such as shards, squares, pyramids, and other formations, all with razor-sharp edges.

There are two types of oxalate imbalance – endogenous producers and the exogenous accumulators.  The person who is an endogenous producer of oxalates lacks certain nutrients in the B vitamin class; B1 Thiamine, active B6 (P-5-P) and magnesium.  When these nutrients are either in over-demand due to a genomic variant or two, or under-absorbed due to a gut imbalance resulting in nutrient mal-absorption or, adequate B-vitamins are simply not included within the diet in the first place, then oxalates are formed more readily, wreaking havoc.

The AGT, GRHPR and LDH genes are B6 enzyme dependent genes – variants in these genes increase the demand on oral B6 through diet and supplementation. 

The COMT, SAMe & other genes are magnesium enzyme dependent genes – variants in these genes increase the demand on oral magnesium through diet and supplementation.

The exogenous accumulator over-consumes oxalates from within their diet, typically from beets, almonds, swiss chard, rhubarb, sweet potato, spinach, chocolate, peanuts, wheat bran, tea, cashews, pecans, almonds, berries, and so on.  Note that spinach is not a food, it is a condiment.  On this note, a lot of vegetarian and health food diets are rich in these oxalate forming foods. People now frequently consume green smoothies in an effort to eat ‘clean’, however, they may actually be sabotaging their health by accumulating oxalates. The most common ingredients of green smoothies are spinach, kale, Swiss chard, all of which are loaded with oxalates. Smoothies also often contain berries or almonds, which have high amounts of oxalates as well. A recent of this example of this green-smoothies high-oxalate issue is on the rise in Mexico.  This is due to a new anti-aging health craze which involves juicing Mexican cactus which is high in oxalates. To compound the issue further, the skin of the cactus is also high in aspergillus mould.  Aspergillus mould feeds candida, which in turn results in an even higher production of oxalates.  

Oxalates can damage tissues and cause pain throughout our bodies as they are lodged in muscles, joints, eyes, urethrae and so on. They cause micro-scrapes as they circulate, leading to pain and infections.  They can also break down the blood brain barrier (BBB), and get into the brain. 

Furthermore, oxalates upregulate Mast Cell Activation Syndrome which we will be taking a look at below.  The thing to remember when coming off high oxalate foods, is to not go cold-turkey because is leads to oxalate dumping, which will increase all symptoms and be damaging to health. It is best to work with an experienced Functional Nutritionist and kinesiologist through this process, to help track changes and mitigate symptoms of going cold turkey.  

The Candida – Oxalate Link

Candida yeasts are well known to wreak havoc in the gut, causing leaky gut syndrome.  But what is lesser known is the process by which candida yeast produces a precursor to oxalates and transforms collagen into oxalate crystals in the gut!

Think Bone Broth! This is frequently touted as one-size-fits-all cure-all, however, when high amounts of collagen mix with candida yeast strains in the gut the results can be extremely toxic.  This is especially true when a person is deficient in B6 (P5P), which can often be a genomic trait.

  • So, those who have high levels of systemic candida, with yeast and fungal overgrowth will be endogenous oxalate producers.
  • Those who consume high levels of oxalates from juicing beets, spinach, Mexican cactus!, almond butter and other nuts and seeds will be exogenous oxalate accumulators. 
  • Those who have genetic variants, pulling on their B1 and B6 nutrient resources will be an endogenous oxalate producers even without falling into one or both of the above categories.  

Genomic Predisposition To Oxalates Linked To Inflammation + Tissue Damage

  • Typically, oxalic acid is expelled from the body via urination.
  • However, if oxalic acid levels are high, oxalate crystals can form in bones, joints, blood vessels, the brain, and other organs, causing inflammation and tissue damage. They can also form in all the tissues in the body, including the skin, liver, and heart.
  • There may be an association between oxalates and those with fibromyalgia who suffer from muscle aches and pains.

Genomic Predisposition To Oxalates Linked To Potentially Higher Than Normal Toxins

  • Oxalates may also latch onto heavy metals like mercury and lead.
  • This may trap them in the tissue and make it hard for the body to release these toxins.

Genomic Predisposition To Oxalates Linked To Decreased Immunity 

  • Oxalate crystals forming inside a bone could suppress functioning bone marrow cells, effectively leading to immunosuppression.
  • The oxalates get into the bone marrow and crowd out the cells that are producing the red and white blood cells.

Genomic Predisposition To Oxalates Linked To Peripheral Neuropathy

  • For those who are genetically deficient in the enzyme AGXT, they may suffer from peripheral neuropathy.
  • This is a condition that affects the peripheral nervous system, causing tingling, muscle weakness, and functional impairment.

Genomic Predisposition To Oxalates Linked To Thyroid issues

  • Oxalate crystals have the ability to form in many different areas of the body, including the thyroid gland.
  • The amount of thyroid hormone may be reduced if oxalate crystals are forming in the thyroid.

Genomic Predisposition To Oxalates Linked To Kidney stones

  • A very common form of oxalate toxicity is the presence of calcium oxalate stones, either in the kidney or other organs.
  • 80 to 90 percent of kidney stones may be due to high oxalate levels.

Armed with this knowledge of your Genomic requirement for B6, the Organic acid test (OAT) is a functional health test that can be used to pinpoint detoxification and oxalate metabolism markers.

Measure Oxalate, Candida, Aspergillus & Detoxification Capacity Using Organic Acid Testing (OAT)

If you are vegetarian and have been consuming a high amount of these foods recently, and you struggle with pain syndromes such as Fibromyalgia, Chronic Fatigue Syndrome or even Autism spectrum disorders you may want to get an OAT and check for Candida, Detoxification and Oxalic Acid markers.  It is recommended to also run a Genomic Wellness Panel for additional functional support.  

Oxalic acid is primarily derived from three sources: the diet, fungus (such as Aspergillus and Penicillium), and Candida.

There are two different types of genetic diseases resulting in high oxalates; hyperoxalurias type I and type II, which can also be determined from the Organic Acids Test.

Oxalate Metabolism Markers

  • Oxalate metabolites include glyceric acid, glycolic acid, and oxalic acid. It’s good to have low levels of these three markers
  • Glyceric and glycolic acids are elevated in genetic disorders (hyperoxaluria type I and II)
  • The high correlation between arabinose and oxalates indicate that intestinal yeast/fungal overgrowth is likely the main cause for elevated oxalates in the autistic spectrum population

Clostridia, Candida & Bacterial Overgrowth Markers

Types of dysbiosis (and their associated urinary organic acids typically measured) include:

  • Lactic acid bacterial overgrowth: D-lactate
  • Clostridial overgrowth: 3,4-dihydroxyphenylpropionate
  • Yeast overgrowth: D-arabinitol

Detoxification Markers

By measuring the levels of organic acids (metabolic byproducts) as our bodies clear toxicants and metabolic waste produce we can get insights into how well the liver and kidneys’ detoxification processes are working.

Urinary organic acids related to detoxification and/or liver and kidney function that are commonly measured on OATs include:

  • Amino acid conjugation: Benzoate, hippuric acid
  • Liver enzyme function: Glucarate
  • Liver antioxidant synthesis: Alpha-hydroxybutyrate
  • Kidney recovery of amino acids: Pyroglutamate 
  • Overall detox and antioxidant function: Sulfate
  • Ammonia clearance: Orotate
  • Xylene exposure: 2-methylhippurate

The Urea Cycle, Ammonia & Oxidative Stress

A healthy Urea Cycle also known as the ornithine cycle, occurs primarily in the liver and depends upon three genes functioning optimally: These genes are called CBS, NOS and SOD2.

It’s first best to understand that these gene enzymes are responsible for removing ammonia from the blood stream, so when the nitrogen builds up in the blood in the form of ammonia, which is then not removed from the body through the urine. This build-up of ammonia can result in genetic disorders such as hyperammonemia.

Elevated ammonia levels in the blood results in reduced mitochondrial energy performance, highlighting the connection between hyperammonemia and fibromyalgia, hyperammonemia and chronic fatigue and hyperammonemia with other energy related syndromes. 

For those with raised ammonia in blood, symptoms beyond muscle weakness and fatigue are usually experienced; such as continual low level nausea, headaches, peripheral nerve irritations, back pain and even accelerated aging. It’s also damaging to the brain, leading to mood imbalances, insomnia, loss of co-ordination, clumsiness and an inability to concentrate. And when an extreme levels of ammonia build up, chronic loading may also lead to a chronic liver condition called encephalopathy. 

So why does ammonia build up in the blood and brain in the first place?

NOS D298E and C19635A variants result in dysfunctional NOS enzymes which are then less effective in breaking down toxic ammonia in the gut. The lack of conversion creates high amounts of free radicals, superoxide and peroxynitrite instead of being converted to nitric oxide. 

CBS C1080T and C699T variants result in dysfunctional CBS enzymes which can increase conversion of homocysteine to create too much ammonia in the gut in the first instance. 

SOD2 G816T and A16V variants result in dysfunctional SOD2 enzymes and low Superoxide Dismutase activity meant to neutralise mitochondrial superoxide to hydrogen peroxide, and therefore leaving the cells vulnerable to oxidative stress and free radical damage. 

All three variations together lead to raised ammonia stores in the blood and gut and oxidate stress issues further on down the line.  

By considering the Urea Cycle as a whole, we can appreciate how a combination of ‘downregulated’ and ‘upregulated’ gene enzymes when positioned in such an opposing configuration can lead to toxic compounds forcibly building up in the body. Mapping genomics successfully means to consider no less than multiple SNPs through one lens.

The Cystathione Beta Synthase (CBS) Gene

As we have established, what is healthy for one person can be poison for another.  This is true for sulfur, when most people need more of it, because sulfur based amino acids are foundational components of many enzymes including our master antioxidant enzyme glutathione. However, those with a dysregulated CBS gene can be severely damaged by too much sulfur.

Addressing the CBS Gene Mutation 

The CBS enzyme converts a toxic compound known as homocysteine to cystathionine as a part of its metabolic process.  Defects in this enzyme (upregulation or downregulation) can lead to either too high ammonia and taurine and low cystathione and homocysteine OR low firing CBS enzyme leading to homocysteinuria which is low ammonia and taurine and too high homocysteine and cystathione.  According to genomic experts, it is the CBS gene/enzyme mutations that need to be addressed before any other gene variants. A good example of this is MTHFR, or MTR, which typically attract a great deal of attention, in particular when only one or two SNPs are tested.  If these or other methylation variants are addressed prior to CBS, there may be a bottle-necking at the CBS within the Urea cycle, with incomplete conversion to glutathione.  We may end up with too high homocysteine as a toxic by-product, for instance.  The CBS mutation results in excessive taurine, ammonia and other sulfur groups, that are released into toxic sulfites in the body.  If the person is also consuming sulfur containing food, this can lead to more sulfites, increased stress and inflammation.  

Measure Oxidative Stress Using Organic Acid Testing

Oxidative Stress

Oxidative stress is the result of an imbalance between free radicals, resulting from either foods consumed, stress, or environmental toxins AND the antioxidants either synthesised within the body or consumed.

Free radicals are molecularly unstable leading to cellular damage, and ultimately cell death and so need to be neutralised by antioxidants, to counteract oxidative stress. 

Antioxidant levels that are indirectly measured via urinary organic acid testing (along with their corresponding organic acids) include: 

  • Glutathione: pyroglutamic acid and 2-hydroxybutyric acid.
  • CoQ10: 3-hydroxy-3-methylglutaric acid.

It is also possible to indirectly measure DNA damage caused by high levels of oxidative stress via the following urinary marker:

  • DNA damage: 8-OH-dg.

Mast Cell Activation Syndrome (MCAS), Histamine Intolerance & Genomics

The symptoms of Mast Cell Activation Syndrome and Histamine Intolerance are often related and could easily be confused as the same condition, but they are not the same condition.

Both Mast Cell Activation Syndrome and Histamine Intolerance contribute to the same conditions such as Mould Toxicity, Autism Spectrum Disorders, Chronic Fatigue, and Fibromyalgia.

Histamine Intolerance is simply either too much histamine due to dietary and lifestyle choices or an inability to clear any significant level of histamine from the tissues. If it is the latter, then the clearance issues are the results of down-regulated gene-enzymes (SNPs).  On the other hand, histamine that is experienced systemically or in the brush boarder of the gut can result from a sensitivity to all histamine sources including environmental chemicals and histamine forming foods. This can be more of an anaphylaxis, when dose doesn’t matter; even the tiniest particle will trigger the histamine cascade.  

Mast Cells typically have the responsibility of protecting our body through an immune response, however, they can become over-reactive and unruly! 

Mast Cell Activation Syndrome describes a variety of mechanisms and is therefore a complex condition to tackle. With mast cells being present in a majority of tissues throughout the body, and that they can release over 200 inflammatory mediators, this leads to systemic inflammation resulting in numerous inflammatory related conditions.  

Those with MCAS tend to feel exhausted all of the time, hopeless and helpless, since MCAS symptoms present suddenly and never really go away despite our best efforts. Other symptoms may include waking up fatigued and in pain, feeling foggy in the head and have digestive and anxiety issues. A person with MCAS can get triggered daily if not hourly by their environment; by perfumes, cigarette smoke, exhaust fumes, household chemicals. But they also get triggered by the food they eat; cheeses, strawberries, chocolate, red wine, but also other foods seemingly innocuous to most people can trigger endless and exhausting flare-ups when a person has acquired MCAS.  

Mast Cell Activation Syndrome can also be brough on by a virus

All persistent viral loading from EBV, HHV6, SARS-CoV-2 and numerous other viruses can lead to MCAS. This is when we re-label the condition from the original virus to its persistent form known as Glandular Fever, Chronic Fatigue and Long-COVID triggering the never ending dance between Cell Danger Response, cell death (apoptosis), mitochondrial insufficiency, adrenal-pituitary-hypothalamic maladaptation, and Mast Cell Activation Syndrome.  Among all this, we see a rise in toxic metabolic by-products such as ammonia, reduced detoxification capacity, high oxalates, high heavy metal loading – blocking cellular functions, higher levels of systemic candida and perhaps other pathogens too such as clostridia and systemic parasites.  

It ends up presenting being quite a mess, as the poor suffering person feels like they have persistent flu that simply will not go away.  Sufferers can experience long term malaise, which is extremely hard to weather, especially over time. And it can, and usually does go unrecognised for years, whilst sufferers continue with complex symptoms that affect all parts of their body; skin, GI tract, heart, respiratory and neurological systems, and so on.

Symptoms of MCAS

  • Eye Symptoms: eye pain, redness, trouble focusing, inflammation in the eyes, blurry, itchy, watery, irritated
  • Skin Symptoms: itching, flushing, hives, easy bruising, reddish or a pale complexion, burning sensations, slow healing of skin, hair loss
  • Reproductive System Symptoms: endometriosis, painful periods, hormonal imbalances
  • Urinary Tract Symptoms: inflammation of tissues, burning, pain with urination, urinary tract infection type symptoms
  • Anaphylactic (can be life threatening): difficulty breathing, itchy hives, flushing or pale skin, feeling of warmth, weak and rapid pulse, nausea, vomiting, diarrhoea, dizziness and fainting
  • Other conditions that may be related to Mast Cell Activation Syndrome: Fibromyalgia, Chronic Fatigue, Interstitial Cystitis, certain cancers, Crohn’s disease, Irritable Bowel Syndrome, Diabetes, Ehler’s Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), Autism Spectrum Disorders, and Autoimmunity such as Rheumatoid Arthritis, Lupus, Hashimoto’s Thyroiditis, and Multiple Sclerosis
  • Systemic symptoms: overall fatigue with food, environmental and chemical sensitivities.
  • Chills, sweats, sense of being cold all the time, inflammation, swelling, swollen lymph nodes.
  • Musculoskeletal Symptoms: osteoporosis and osteopenia (even in young people), arthritis that moves around, general muscular and bone pain, hyperflexible joints, degenerative issues
  • Cardiovascular Symptoms: feeling faint or fainting, chest pains, fast heartbeat, heart palpitations, dizziness and lightheadedness when standing up, low blood pressure
  • Digestive Symptoms: mouth burning, gum inflammation, diarrhoea, constipation, cramping, abdominal pain, nausea, vomiting, reflux, trouble swallowing, throat tightness, malabsorption, bloating, elevation of liver enzymes, increased food sensitivities and food allergies, irritable bowel syndrome
  • Brain and Nervous System Symptoms: brain fog, short term memory issues, trouble recalling words, increased number of headaches and migraines, depression, loss of pleasure in life, nerve pains, trouble with attention, anxiety, insomnia, dizziness, tinnitus, numbness, sweating, tingling and numbness in arms and legs
  • Lungs and Respiratory Symptoms: congestion, coughing, shortness of breath, wheezing, increased mucous production, post-nasal drip, sinus congestion, frequent throat clearing

Mechanisms of action that contribute toward Mast Cell Activation Syndrome

The signature genetic mutation for Mast Cell Activation Syndrome is the D816V variant.  But variants can also be seen in the NLRP3 gene, associated with the inflammatory response. TNF-Alpha is also found in mast cells.  This is an inflammatory cytokine binding to receptors on the surface of endothelial (blood vessel) cells.  

As mentioned, there are mast cells in nearly all tissues in your body – hence the number and diversity of symptom presentations.  Your personal presentation will depend entirely on your genomic predispositions in response to your dietary and lifestyle choices affecting where in the body the mast cells are being affected most.

Your first action step should be to ‘Cut the Noise’, meaning to identify and remove all of the triggers.  This will include food, household chemicals, and especially – cleaning out the mould from your home.  

But there is more to the genomic story than just one variant.  There are three histamine degrading pathways in the body.  The popular one that people consider is the Diamine Oxidase Pathway (DOA), coded by a gene called ABP1 or AOC1.  Diamine Oxidase (DOA) is made in the brush border cells of the intestines.  Genetically, some people do not make enough of this enzyme, contributing to histamine intolerance

There is another pathway that is dependent on the HNMT enzyme, and that stands for histamine and M-methyltransferase, meaning that HNMT is a methylating gene – signified by the MT.  This enzyme contributes to a histamine degrading pathway.  This enzyme pathway depends upon SAMe to methylate this gene, in order to break down histamine systemically, throughout the whole body.  The third, lesser known pathway is Acetylation, which is one of our phase 2 detox pathways, which also breaks down histamine.  In the Acetylation pathway we have MAO A and MAO B and ALDH, the aldehyde dehydrogenase enzyme.

Other variants can also be seen in the MCAS story, such as a compromised NLRP3 gene, associated with the inflammatory response.

So what do we do – How do you cut the noise? 

Start on a low oxalate, low histamine, low lectin diet, just for six weeks to three months.  Meanwhile, run a comprehensive genomic panel preferably one that assesses over 160 genes and their associated enzymes and run an OAT.  Then work with a trained healthcare practitioner who has experience of working with MCAS cases. Do not try and deal with MCAS on your own, since it is possible to make your condition worse. Ideally your route to resolution should suit your genomic blueprint and tracked with functional testing.  

The Most Common Triggers behind MCAS:

  • Food triggers (beyond just histamine)
  • Infections from viruses and persistent viral loading 
  • Toxicity
  • Genetic Factors (like detox and inflammation issues)
  • Nutritional Deficiencies
  • Stress and/or Early Trauma
If you missed my first post in this series:

HOW BEING A HIGHLY SENSITIVE PERSON & ADOLESCENT CHILDHOOD EXPERIENCES CAN PREVENT DETOXIFICATION
you can find the original page here

Medication & Genomics

As we have established, some genomic variants upregulate the function of the gene, meaning that the enzyme within the gene will run faster.  On the flip side, some variants downregulate the function of the gene, meaning that the enzyme within the gene will run slower.  The result being that the same medication recommended to numerous people, will result in a myriad of different outcomes.  This is because the same medication might be broken down very quickly or very slowly, or it might be well regulated.  The dose should be adjusted according to the genomic blueprint.  However, most Drs don’t know that, although they should!

The Future Of Medicine

It seems clear that now and in the future, medical Drs need to be trained in the science of Genomics but currently most of them are not.  Medical Drs prescribe medication routinely, often by the hour to their patients.  However, all medications behave differently according to our Genomic Blueprint. Some people have significant genomic variants throughout all three phases of their detoxication, reducing their capacity for clearing medications. Therefore, Genomic testing can help to determine this type of person thereby tailoring their medication accordingly.

Therefore, in order to prescribe medication accurately and safely it’s responsible, and in some cases life saving, to know exactly how the patient’s detoxification pathways are going to behave. Prescribing without this knowledge may result in administering medication that a patient isn’t able to metabolise, potentially resulting in a litany of serious issues. Lazarou and Pomeranz’s 1998 study into causes of death revealed that properly prescribed medications in the correct doses represented the third to fifth leading cause of death in the western world. Reference: https://pubmed.ncbi.nlm.nih.gov/9555760/

The most acute example might be when a patient has been prescribed SSRIs for depression, and they have something called an MAO-A gene-SNP associated with reduced effectiveness of the antidepressant. A reduced MAO-A can cause serotonin toxicity otherwise known as Serotonin Syndrome characterised by neuromuscular excitation, autonomic issues and in some cases severely altered mental states. 

It seems wise to refrain from prescribing potentially harmful medication until your GP fully understands your genomic potential.