Genetics as a cause of autism?
Just to set the record straight - it really isn't as simple as there being one single cause of autism. Instead, the causes are as varied and diverse as the individuals who have it! A combination of vulnerable genetics and environmental factors in varying degrees are responsible. It is why there is a such a massive spectrum of symptoms.
When I hear people talking about autism as purely a genetic condition I feel saddened. The reason for this is because that statement by itself without the proper understanding of genetic interactions leads one to a place of no hope. 'If genes are responsible, what can I do, because I can't change genetics' kind of a thing.
It is very important to understand that your child's genetic destiny is not fixed like we once thought. Whilst your actual genes can't be changed, the way that they are EXPRESSED can be.
The genes in our bodies are like DNA blueprints. They are a pre-set program, but can be affected by the environment. Much like when building a house - there will be a standard set of blueprints containing windows and a door. Which type of door and windows selected will be impacted by the environment. Source
What changes or mutates a gene is the signal it receives;
1. Trauma; via the nervous system.
2. Toxins; chemicals of any kind
3. Mind; wrong signals are sent at the wrong times and create dysfunction and disease'
If you are looking at autism as purely genetic, what a glorious thought that enriches us with hope that our children can actually have a better quality of life purely by changing their environment!
Learn More
Whichever place you might find yourself on this journey, I would highly recommend reading Julie Mathew's book 'Nourishing Hope for Autism' and the amazing Amy Yasko's book 'Feel Good Nutrigenomics'.
What are SNPs?
snpS
One of the most important pieces of the genetic puzzle is a type of genetic variation/mutation called an SNP (single nucleotide polymorphism - pronounced 'snip').
SNPs are the most common type of born genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. Hence the name single nucleotide polymorphism. See above diagram.
So far around ten million SNPs have been identified in the human genome.
Most SNPs have no effect on health or development.
Researchers have found some SNPs however, that may help predict an individual’s response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases. SNPs can also be used to track the inheritance of disease genes within families. Source .
Some SNPs bring weakness but also some strengths too. For example in Ben Lynch's book 'Dirty Genes' he discusses how certain SNPs in an unhealthy environment can predispose us to cancer, but the same SNP in a healthy environment has a positive impact on personality traits - such as energy, enthusiasm and happiness. The environment you put your child in really does matter!
With the right environment the positive can outweigh the negative and the result doesn't have to be ill health. You are not held hostage by your genetics!
If you see certain patterns of ill health in a few generations, look not only at what the genetics is saying. Yes, there may be specific inherited mutations SNPs predisposing to certain diseases. But look at the lifestyle too.
Did the son with an autoimmune condition, drink heavily like the father did? Did the daughter with heart disease smoke, eat a diet full of sugar and live in a home full of mould just like the mother and her mother before her?
The environment is SO crucial. It is not fair and not accurate to blame the 3 generations with heart disease on only genes. Usually we see the same lifestyle running through generations of families. These inherited SNPs + the unhealthy lifestyle is what is causing the disease we see 'running' through families.
It is important to understand that the impact that certain SNPs have on health is not definite. These are predispositions that are accelerated by environment.
Scientists also theorise that SNPs are evolutionary necessary for the greater good of the community. People with an SNP for example that causes the person to be highly sensitive to toxic exposures. These are the 'highly sensitive individuals' who are the 'look outs' for the general population by feeling danger immediately by way of a reaction. Thereby saving many lives via warning the rest of the community about the poison/ toxin etc.
I have a course launching on the 31/1/21 which will help you to implement changes
WHY ARE SNPs important for my child with autism?
The perfect storm
The reason that there is an SNP section on this site, is because Certain SNPs have been identified that affect the enzymes that are critical to the body’s detoxification processes.
We know that these SNPs are extremely common in the autism population.
To give an example genes code for enzymes to carry out important functions within the body (see below diagram). These enzymes are part of a large cycle called methylation with many different parts all having to work together to achieve a goal.
Let's say this goal is detoxification. When there is a SNP in the gene, the enzyme that the gene usually makes is impaired slightly so it can't do its job of being part of the chain of events that result in detoxification.
This equates to an increase in the vulnerability to environmental toxins, and certain nutrient deficiencies. Children with one or more SNPs that restrict their detoxification capacity may have a lower tolerance for environmental toxins – from chemical
exposures, EMF exposures, medications, stress, or other factors. They may reach their “total load” sooner. The total load theory I talk about HERE.
This is also why not all children are diagnosed with autism even with the huge cocktail of exposures that all children of this generation face. In some children - genetics are predisposed to having faulty detoxification pathways by SNPs. This coupled with multiple environmental insults from food, water, cleaning, self care, EMF, moulds, trauma, vaccines etc results in an autism diagnosis. Usually regression in early life. Note that they CAN - this doesn't mean they HAVE to. With the right nutrients and lifestyle modifications, mutations can be over-ridden and never need to impact health. To give a brief example - the MTHFR gene codes for the MTHFR enzyme. This is important because it converts folic acid into useable methyl folate in the body. Methylfolate is required for all of the body systems to work effectively - because it is crucial for methylation. The MTHFR SNP is very common, however if you eat leafy greens and get methylfolate that way this one particular impairment can be over ridden. It is much more complex than this. But can give a small insight into just how important diet can be for children with autism.
There are specific SNPs (see below) that are known to be extremely common in children with autism. All of which impact the crucial detoxification pathways in the body and processing of important neurotransmitters which impact sleep, speech, regulation of behaviour etc. It is important to note that SNPs are NOT the main driver of genetic expression. Epigenetics or in other words the environment is. Epigenetics is what controls how your genes are turned on or off. How environmental influences such as diet, toxins impact genes. Read more about epigenetics HERE.
This perfect storm theory of how a child ultimately results in an autism diagnosis is one I have enjoyed learning about so much. It integrates the 'Total Load' Theory - whereby a body is repeatedly exposed to environmental insults to the point where illnesses and diagnoses ensue. It rings true to me and I know many other parents that I have connected with on this journey.
Having this knowledge has greatly improved the quality of my family's life.
The perfect storm is the cause of most if not all disease and diagnoses of today.
It posits that;
TOXIC EXPOSURE + POOR DETOXIFICATION PATHWAYS = AUTISM/ OTHER DIAGNOSES
Click HERE for more info on toxins
I know it seems crazy and a lot for you to get your head around if you have been repeatedly told that your child's condition is only 'genetic' and nothing can be done. That is an extremely outdated viewpoint. There is so much to learn and understand about the ways in which we can help our kids.
The diagram below is a simplified view of what happens when there is a SNP present in genes that code for enzymes that are crucial for various functions. As you can see the enzyme's function can be impaired.
HOW DO I KNOW IF MY CHILD HAS SNPs?
Simple un-invasive tests can be carried out to ascertain your child's SNPs.
1. Saliva test via www.23andme.com. You can order this online and then run it through this software - https://www.seekinghealth.com/products/strategene-analysis to ascertain which SNPs are present. Bear in mind that the child will need to be able to spit to fill a slim test tube around a quarter full. At the time of testing my daughter was unable to do this. So we found the below option much easier.
2. Cheek swab from MTHFR Genetics - much easier to perform and does not require the child to spit.
Epigenetics
Epigenetics is what controls how your genes are turned on or off...
The way to think of autism being 'inherited' is to think of family history of illness and inflammation. The fact that inflammation and autoimmunity in parents is correlated with autism in their offspring is unsurprising. Julie Matthews talks a lot about how impaired sulphation can run in families. Impaired sulphation impairs detoxification pathways, and behaviours and lifestyles are known to run in families. Like I said above - the genetic predisposition might have been passed down, but it is the environment that catalyses the onset of ill health and all sorts of diagnoses. Environmental toxins have increases year on year since the '50s. It is estimated that there are now upwards of 70,000 chemicals circulating us, many of which are untested. It is not surprising that we are seeing such surges in severe autism rates and other diagnoses.
- Epigenetics Controls Genes. This is achieved through (a) nature: epigenetics is what determines a cell’s specialization (e.g., skin cell, blood cell, hair cell, liver cells, etc.) as a fetus develops into a baby through gene expression (active) or silencing (dormant); and (b) nurture: environmental stimuli can also cause genes to be turned off or turned on.
- Epigenetics Is Everywhere. What you eat, where you live, who you interact with, when you sleep, how you exercise, even aging – all of these can eventually cause chemical modifications around the genes that will turn those genes on or off over time. Additionally, in certain diseases such as cancer or Alzheimer’s, various genes will be switched into the opposite state, away from the normal/healthy state.
- Epigenetics Makes Us Unique. Even though we are all human, why do some of us have blonde hair or darker skin? Why do some of us hate the taste of mushrooms or eggplants? Why are some of us more sociable than others? The different combinations of genes that are turned on or off is what makes each one of us unique. Furthermore, there have been indications that some epigenetic changes can even be inherited.
- Epigenetics Is Reversible. With more than 20,000 genes, what will be the result of the different combinations of genes being turned on or off? The possible arrangements are enormous! But if we could map every single cause and effect of the different combinations, and if we could reverse the gene’s state to keep the good while eliminating the bad… then we could hypothetically* cure cancer, slow aging, stop obesity, and so much more.
There are a plethora of factors that can influence how genes are expressed. And even behaviour can influence which of our genes are turned on or off. See below . Fascinating that ALL of which are within our control...
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Learn more about how to put dietary and low tox interventions into place in my new course WHERE TO START 101
Things that impact genetic expression (Epigenetics)
Diet
- Too many processed carbohydrates
- Too much sugar
- Too much protein
- Not enough protein
- Not enough healthy fat
- A shortage of nutrients required for genes to work properly such as B vits, zinc, copper, vit C
exercise
- Living a sedentary lifestyle
- Exercising to excess - and putting the body under strain
- Dehydration
sleep
- Not enough deep restorative sleep
- Going to bed late and causing imbalances in the circadian rythmn
- Irregular disrupted sleep patterns
environmental toxins
- Food
- Water
- Air
- Self care
- Cleaning products
- Mould
- EMF
stress
- Psychological stress, trauma
- Physical stress - chronic infections/ sensitivities/ intolerances/ allergies
- Your own mindset
Behaviour
- Connectedness to nature and surroundings
- Sunlight
- Community and loved ones
- Hobbies
- Breathing pattern and style
hormones
- Oestrogen
- Testosterone
Nutrigenomics
nutrigenomics by amy yasko..
In her book 'Autism Pathways to Recovery' Amy explains how she 'has evolved a holistic approach for bypassing genetic issues in the methylation pathway through the use of the budding science of “Nutrigenomics.” Nutrigenomics is a hot new area of research that you may have read about, based on the understanding that, while we cannot change our genes, we can change the way our genes act.
For example, certain foods or supplements prompt our genes to act in healthy or unhealthy ways. Through the study of Nutrigenomics, scientists are learning what to eat (or to avoid) to promote healthy vs. unhealthy “genetic expression.” Using Nutrigenomics, labs compare the genomes of a large sample of individuals to determine which genetic “print-outs” represent “normal” vs. mutated variations.
The goal of Nutrigenomics is to supply the body with the specific nutritional ingredients it needs for healthy functioning on a daily basis. Most of us have genetic mutations of some kind. Nutrigenomics is genetically targeted supplementation. These mutations impair our ability to perform all the biochemical actions necessary for ideal function. As a result, we may produce too much or too little of something, creating biochemical imbalances that lead to dysfunction and ultimately to health problems. Through supplying the missing nutritional ingredients that the body requires but cannot adequately produce itself due to genetic mutations, Nutrigenomics helps us to, in effect, “bypass” the genetically induced decrease in function, and restore proper functioning.
Sources and further reading...
Amy Yasko's book - Feel Good Nutrigenomics
Amy Yasko's book - Autism - Pathways to Recovery
Dr Ben Lynch's book - Dirty Genes
'Epigenetics: Modifying the Genetic Blueprint' Click here for article
'Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism'. Click here for article
'Single nucleotide polymorphisms predict symptom severity of autism spectrum disorder' Click here for article
See blog ' Understanding The Methylation cycle and it's Impact on Health'