Let’s Talk About Autism, Again
I already covered two key factors contributing to autism in https://www.stittleburgrhc.com/lifestyle-blog/lets-talk-autism -the Standard American Diet and the overuse of antibiotics and medications. These two previous key factors can be modified. However, today's topic, you were born with.
This blog is going to be focused on a genetic perspective, specifically the MTHFR gene.
Autism is a heterogeneous neurological disorder characterized by three core behavioral traits:
(Heterogeneous meaning autism comes from multiple etiologies)
-Severity is based on social communication impairments and restricted, repetitive patterns of behavior-
ww.w.cdc.gov/ncbddd/autism/hcp-dsm.html Autism Spectrum Disorder: Diagnostic Criteria
Over the years there has been a lot of research on autism as we continue to see the rates steadily climb. There are many proposed etiology theories of Autism, ADHD (Attention-Deficit/Hyperactivity Disorder), PDD (Pervasive Developmental Disorder), ASD (Autism Spectrum Disorder), Developmental Disorders, etc:
Currenti SA. Understanding and Determining the Etiology of Autism. Cell Mol Neurobiol. 2010; 30:161-171
Today I am covering:
Our children's health and well-being are dependent on us. You gotta nourish to flourish!
Single Nucleotide Polymorphisms (SNPs):
You cannot change your genetic makeup. The human genome is mostly the same in all people; but there are variations across the genome. A genome is all the genetic material in an organism. DNA is passed from parent to child. This is done with the making of new cells, to do this, an existing cell divides in two. Before it divides, the cell copies its DNA. DNA is the hereditary material aka the cells genetic instructions. Sometimes cells make mistakes during the copying process - essentially ‘typos’. These ‘typos’ lead to variations in the DNA sequence at specific locations, called single nucleotide polymorphisms, or SNPs (pronounced "snips"). Each SNP represents a difference in a single DNA building block, called a nucleotide.
The MTHFR Gene:
We test for this mutation through saliva or blood. The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. (So, the MTHFR gene produces the MTHFR enzyme.)
Before I talk about certain locations of SNPs, I want to explain that these numbers most likely mean nothing to you. However, they are very important and useful to me. Just like shelving a book in the library, the librarian knows exactly what the important, random combination of letters and numbers are used for- think of me as the librarian on your genes.
The two different places that we look at for MTHFR deficiencies are locations 677 and 1298. The SNPs of MTHFR affect how well the body is able to activate folate into the bioactive form. Through Functional Medicine, these mutations can be found and treated with supplementation, diet, and lifestyle.
Homozygous means that both copies of a gene match.
Two dominant alleles (AA) or two recessive alleles (aa) are homozygous
Heterozygous means that the copies do not match.
One dominant allele and one recessive allele (Aa) is heterozygous.
Get this! An analysis performed at a Portland, OR based lab showed that roughly 86% of symptomatic patients have at least one MTHFR polymorphism. What does that mean? Almost 9 out of every 10 patients with autistic or other neurological symptoms, probably have at least one MTHFR polymorphism that is affecting their ability to generate active folate.
MTHFR in general has been associated with increased ASD risk.
Pasca SP et al. One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders. J Cell Mol Med. 20009; 13(10):4229-4238.
MTHFR C677T is associated with the greatest influence on enzyme activity and increased overall ASD risk.
Leclerc D et al. Molecular Biology of Methylenetetrahydrofolate reductase (MTHFR) and Overview of Mutations/Polymorphisms. NCBI Bookshelf: Madame Curie Bioscience Database.
MTHFR 677 is more present in autism.
Pu D1, Shen Y, Wu J. Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis. Autism Res. 2013 Oct;6(5):384-92. doi: 10.1002/aur.1300.
MTHFR A1298C has been reported to have a more influential effect on mental health disorders.
Sener EF1, Oztop DB2, Ozkul Y3. MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders. Genet Res Int. 2014;2014:698574. doi: 10.1155/2014/698574.
So, what does this all have in common?! NEUROTRANSMITTERS. Neurotransmitters are our body’s chemical messengers i.e. very important.
MTHFR is linked to the production site of neurotransmitters-
Now, this was a lot of science and a lot of information. I am here to educate, inform, and spread awareness and hope. The mutations and pathways I mentioned above CAN be supported with certain supplements and diet/lifestyle changes. NEVER let anyone tell you that you must just accept your illness and learn to live with it. If you would like information on how Functional Medicine can help autism, please contact Stittleburg Restorative Health Care!
Let's get back to health,
Let's Talk Autism:
ONE in FIFTY-NINE children are affected by autism today! (Further research shows these numbers to be higher but we’ll stick with what the CDC has to say.) That right there, is terrifying to me. What else is terrifying? I have a son, and 1 in 37 boys are diagnosed with autism compared to 1 in 151 girls.
But wait- the United States spends THE MOST on healthcare… So why are our children progressively becoming autistic?
I’m going to address just two reasons in this blog:
The Standard American Diet (SAD)- is just that, sad. Let’s just look at some numbers from The National Cancer Institute:
We need to be eating REAL food. Your body cannot function properly without the good proteins, the good carbs, and the good fats that it needs. Moreover, your body needs essential nutrients. An essential nutrient is a nutrient required for normal body functioning that cannot be synthesized by the body. This means the body cannot make these nutrients! Essential nutrients include vitamins, dietary minerals, essential fatty acids, and essential amino acids.
High glutamate levels have been associated with autism. What even is glutamate? Glutamate is the most common excitatory neurotransmitter in the brain. What does this have to do with the SAD diet? MSG can increase glutamate levels. (I know you’ve seen MSG on food packages) MSG is short for monosodium glutamate and it is a popular ingredient in processed foods. Glutamate needs two important vitamins to support metabolism and conversion, Vitamin B3 and Pyridoxal 5’-phosphate (P5P) which is the active coenzyme form of Vitamin B6. In a primarily processed food diet, glutamate continues to be in excess, while P5P and Vitamin B3 stay deficient. I’ve added a short blerp below of this supporting pathway.
Alright, I think that’s enough biochemistry pathways for this blog! Let’s move onto the overuse of antibiotics and medications.
I thought this was interesting, xanthurenate is a functional marker of Vitamin B6 and is a metabolite of the amino acid tryptophan. (Remember I already stressed B6 above) Use of medications such as oral contraceptives, anti-hypertensives (high blood pressure medications) and bronchodilators (asthma inhalers) and exposure to tobacco smoke as well as pesticides can all contribute to deficiency in B6.
But let’s get into the biggest culprit, leaky gut syndrome or hyperpermeability. Leaky gut is a very common problem. Basically, it’s a condition that occurs when there is inflammation and the “pores” lining the GI tract stay open too long. This means toxic by-products in the digestive tract will be absorbed into the blood stream and taken into the liver. Leaky gut is associated with a wide range of general symptoms and is an underlying factor in autism.
If our tight junctions are open too wide, toxins from the gut will spill into the bloodstream causing allergies and dozens of other ailments. Triggers for gut dysfunction can develop from poor diet, overuse of antibiotics, and/or overuse of medications. I will be doing another blog on hyperpermeability, so let’s keep this children/autism related!
The digestive tract is one of the most important immune support organs. To get right to the point, scientists have discovered that the body has two brains – the one we all know in our skull and a vitally important one found in our gut called the enteric nervous system. The magnitude and complexity of the enteric nervous system is unreal, it contains as many neurons as the spinal cord. The human gut is sterile at birth but is quickly colonized. By one year of age, it looks similar an adult profile, but still unique to that child. Total adult load is estimated at 1,800 genera, 40,000 species, 1-2kg in weight, 100 trillion in number and possesses 100 times the genes found in the human genome.
The overgrowth of candida and other species of yeast in the gut, mainly in children, can be due to overuse of antibiotics and sugar in the diet. This can lead to the formation of abnormal, toxic organic acids associated with attention deficit disorders and autism.
Trust me, we are all doing the best we can!
There is hope and we are here to help. Please contact Stittleburg Restorative Health Care for more information!
DNA Res. 14, 169–181. 2007.
Gastroenterol. 24, 4–10. 2008.
PLoS Biol. 5, e177. 2007.
Dr. Taryn Stittleburg, DC, CFMP, PSc.D