By Teresa Conrick
I wrote about SPARK a few years back , and this is the description from their site -- the “Simons Foundation Powering Autism Research for Knowledge,’ and the mission is simple: we want to speed up research and advance our understanding of autism to help improve lives.” How and why is gene-hunting research STILL a “thing” in autism? We went from Dr. Leo Kanner, in 1943, bashing parents as “frosty,”---- to cold, unfeeling, “Refrigerator Mothers,” in 1967, with the fraud, Bettleheim,----- and then autism made its debut in the DSM of 1980, a horrible move as it is NOT psychiatric,---- and then the popularity of gene-hunting for autism in the 1990’s …..and it has been stuck there for too long! It is so frustrating to read obsolete research from scientists that is just plain irrelevant and then confusing parents, thinking that it is new, or helpful. It is neither. But they may not know any better so let’s help them out. I think it is important to look at patterns, as that can help us find solutions.
There is rapid, and I mean lighting speed research coming out, that is showing that the hot spot of autism is not in a gene hunt, and thus not GENETIC. What study after study IS showing is that we are living in a world now that is producing very impaired microbiomes and seeing increases in these regressive disorders like Autism, Parkinson’s, ALS, Altzheimer’s, Schizophrenia, Neuropsychiatric Disorders, Cancer, and ever- increasing numbers of autoimmune diseases. There are different avenues to succumb to these diseases, but the common denominator is that the gut microbiome is impacting the brain, the immune system and genes. The issue with genes seems to be that these gut microbes are actually causing GENE EXPRESSION to happen. This is a good example:
Alterations in gut microbiome composition have an emerging role in health and disease including brain function and behavior. Short chain fatty acids (SCFA) like propionic (PPA), and butyric acid (BA), which are present in diet and are fermentation products of many gastrointestinal bacteria, are showing increasing importance in host health, but also may be environmental contributors in neurodevelopmental disorders including autism spectrum disorders (ASD)....PPA and BA induced broad alterations in gene expression including neurotransmitter systems, neuronal cell adhesion molecules, inflammation, oxidative stress, lipid metabolism and mitochondrial function, all of which have been implicated in ASD. In conclusion, our data are consistent with a molecular mechanism through which gut related environmental signals such as increased levels of SCFA's can epigenetically modulate cell function further supporting their role as environmental contributors to ASD.
….mice colonized with human ASD microbiota also showed altered gene expression in their brains and differences in the types of metabolites present (metabolites are the molecules produced as byproducts of digestion and microbial metabolism). Two metabolites in particular were found in lower amounts in these mice: 5-aminovaleric acid (5AV) and taurine.
This recent and exciting study is on ALS, but its concepts and conclusions add to this medical phenomenon --- bacterial metabolites causing gene expression:
How does the Akkermansia alter the progression of ALS in the mouse? Like other gut-brain findings, the team suggest a link to the production of small molecules by the bacteria. They honed in on one—nicotinamide (NAM) which was able, when given alone, to enter the bloodstream of the mice from the gut and alter gene expression in the brain. The genes that were altered, as measured by RNA-seq, were involved in mediating oxidative damage and mitochondrial functionality.
To envision this in autism, follow this description:
The human gut microbiota may be viewed upon as an organ  and contributes to the digestion of food and the breakdown of toxins and drugs, regulates lipid and glucose metabolism, plays a fundamental role in the induction, training and function of the host immune system, modulates gene expression, and reduces inflammation . In addition, 20%–40% of the small molecules in the peripheral blood are microbial metabolites, many of which have profound effects on CNS development and function . Although there are numerous diseases that have been linked to dysbiosis of gut bacteria, it is critical for future studies to distinguish whether dysbiosis is the cause or the result of these diseases, as it determines how intervention strategies would develop. Prebiotics and probiotics have been widely used to treat some diseases, and they have shown great benefits to human health. In some cases, the change of a single bacterial species plays a key role on disease development, while in other cases dysbiosis of multiple species (microbiota composition) underlies the diseases.
Seeing that connection, follow this line of research as it has not been done in autism but I am hopeful someone will see these connections and DO IT for our children…..
University of Alberta researchers have identified a unique biological marker that can be used to identify the presence of the rare autoimmune disease myasthenia gravis, predict the course of the disease and identify new, personalized treatments.
In a study published in the journal Metabolomics, neurologist Zaeem Siddiqi, graduate student Derrick Blackmore and their team used metabolic analysis of serum (blood with all cells removed) to find a unique pattern of metabolites--products of the body's metabolic processes such as amino acids, vitamins or antioxidants--that is specific to myasthenia gravis…..Siddiqi and his team first compared the serum of patients with myasthenia gravis to a healthy control group. They then performed a comparison of serum from myasthenia patients to serum from rheumatoid arthritis, another autoimmune disease. After identifying more than 10,000 compounds in the serum samples, they found a unique pattern of 12 metabolites exclusive to patients with myasthenia gravis.
This though, has autism all over it. And the conclusion:
Moreover, the host health consists of two aspects: the physiological health and the psychological health. Recently, numerous findings have supported that the gut microbiota participates in almost all of the host health issues, whereas the relationship between the gut bacteria and the psychological conditions is still limited. Thus, more attention should be paid on this area. For instance, children with ASDs who have gastrointestinal disorders may present with behavioural manifestations [76–78], and in the near future, the gut microbiota might become the new ID of each patient with disorders of psychology……..Meanwhile, identification of gut bacteria-derived molecules would greatly facilitate the treatment of these diseases.
That is what we need. Treatment of these diseases.
That is a big discovery. This next one about gene expression is extremely alarming, yet for parents who have very affected children with an autism diagnosis, it explains so much. It also shows that the world needs to wake up to the fact that autism is not a cute diagnosis, that lights up our April. Our children can be very ill: Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer
Epidemiological and clinical evidence points to cancer as a comorbidity in people with autism spectrum disorders (ASD). ...
Comparisons of ASD and cancer differential gene expression meta-analysis results suggest that brain, kidney, thyroid, and pancreatic cancers are candidates for direct comorbid associations with ASD …..
That is sobering and sad. The evidence keeps mounting that again, the microbiome is involved .
If we can stop this process by treating the gut, changing the microbiome in autism, hopefully we can change the fate for those with an autism diagnosis. Health issues, immune dysfunction, neuropsychiatric behaviors and cancer trajectories could be reversed. Will SPARK be doing that?
Instead of looking for “autism genes,” and claiming that gene mutations are the cause , science is really showing that mutations in the gut population and missing species of bacteria are often the clues that need investigation. Treatments are meaningful in microbiome research. Gene-hunting had their turn. Enough.