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Autism’s Causes and Biomarkers: An Interview with Helen Ratajczak, Ph.D.

Posted May 01 2011 12:00am

Ratajczak By J.B. Handley

In the most recent issue of the Journal of Immunotoxicology, Helen V. Ratajczak, PhD  , had two separate reviews published. The first review, Theoretical Aspects of-Autism Causes a Review  tackles a seemingly taboo topic in mainstream health: the many potential environmental causes of autism. Dr. Ratajczak writes:

“Autism could result from more than  one cause, with different manifestations in different individuals that share common symptoms. Documented causes of autism include genetic mutations and/or deletions, viral infections, and encephalitis following vaccination. Therefore, autism is the result of genetic defects and/or inflammation of the brain. The inflammation could be caused by a defective placenta, immature blood-brain barrier, the immune response of the mother to infection while pregnant, a premature birth, encephalitis in the child after birth, or a toxic environment.”

Perhaps more controversially, Dr. Ratajczak also proposes a novel theory regarding the mechanism of action for a vaccine to cause autism:

“The MMR II vaccine is contaminated with human DNA from the cell line in which the rubella virus is grown. This human DNA could be the cause of the spikes in incidence. An additional increased spike in incidence of autism occurred in 1995 when the chicken pox vaccine was grown in human fetal tissue (Merck and Co., Inc., 2001; Breuer, 2003). The current incidence of autism in the United States, noted above, is approximately 1/100.

The human DNA from the vaccine can be randomly inserted into the recipient’s genes by homologous recom- bination, a process that occurs spontaneously only within a species. Hot spots for DNA insertion are found on the X chromosome in eight autism-associated genes involved in nerve cell synapse formation, central nervous system devel- opment, and mitochondrial function (Deisher, 2010). This could provide some explanation of why autism is predomi- nantly a disease of boys. Taken together, these data support the hypothesis that residual human DNA in some vaccines might cause autism.”

Her conclusion is something I’m sure many parents wish more researchers were willing to embrace:

“It is possible that autism results from more than one cause, with different manifestations in different individuals that share common symptoms. Integrating the data presented here, a hypothesis is that autism is the result of genetic defects, with the contributory effect of advancing age of the parents, and/or inflammation of the brain. The inflammation could be caused by a defective placenta, an immature blood- brain barrier, the immune response of the mother to a viral or bacterial infection, a premature birth, encephalitis in the child after birth, or a toxic environment. Also, intracellular pathogens could induce an immune response, resulting in neuro-inflammation, autoimmune reactions, brain injury, and autism.”

Dr. Ratajczak’s second paper is called Theoretical aspects of autism: biomarkers—a review . Here, Dr. Ratajczak seeks to summarize many of the previously established biomarkers of autism present in the “gastrointestinal, immunologic, neurologic, and toxicologic systems” of children with autism. She writes:

“Covering the literature from 1943 to the present in the PubMed and Ovid Medline databases, this review summarizes evidence of hormones, metabo- lites, amino acids, and other biomarkers present in significantly different quantities in autistic subjects compared to age- and sex-matched controls. These differences can be measured in the gastrointestinal, immunologic, neu- rologic, and toxicologic systems of the body, with some biomarkers showing ubiquitous application. In addition, there are unifying concepts, i.e., increased vulnerability to oxidative stress, immune glutamatergic dysfunction, and pineal gland malfunction. The variances of the biomarkers from the norm present the opportunity to create biomarker arrays that when properly developed and analyzed could result in an objective diagnosis with a ranking of the severity of autism for each subject. The contribution of each biomarker to the overall diagnosis could be calculated, thus providing a profile pattern unique to the individual. This profile could consequently provide information for therapeutic interventions on an individual basis.”

As a parent, I’d like to express my gratitude for Dr. Ratajczak’s work. A scientist who is willing to both stick her neck out and address unpopular theories around causation while also seeking to move the debate around biomarker diagnostics and treatment forward is a welcome scientist indeed.

Below is an email interview that I conducted with Dr. Ratajczak, and one I hope the AoA community will enjoy reading.

Q: Why did you become interested in looking into autism? 

A: My first interest in autism was sparked when my grandson was diagnosed as having autism 15 years ago. He is now 18 years old. There are many similarities between autism and rheumatoid arthritis, which was my first area of study for the masters of science degree.  The PhD was a study of respiratory syncytial virus vaccine. My scientific career was largely involved with immunology and toxicology, which are both intimately involved in autism. In effect, my current research is an extension of my education and experience.  It is very important I do what I can to help my grandson and all others afflicted with this serious disorder. 

Q: The CDC and AAP do not acknowledge that the increase in prevalence of autism is real, but rather continue to infer that it MAY be real, or it may be the product of improved and shifting diagnosis. You seem to think the evidence supports a real rise. Why can't scientists agree on this simple yet critically important topic? 

A: The CDC is reevaluating its position on different issues. There are a lot of politics and money issues which interfere with presentation of the truth as perceived by scientists and parents. The increase in incidence and prevalence of autism in the USA is real, and is being replicated in different countries throughout the world, based on epidemiology studies.

Q: How would you characterize the reaction to your 2 papers? Was it what you expected? 

A: So far, most of the response is about different aspects of vaccines presented in the paper about causes of autism. It is good that some people are reading the two papers together, getting an overall view of the magnitude of the problem, the size of the epidemic, and the manifestations that these present. The costs are staggering. I hope to do research to establish an objective measure of autism that can be used therapeutically. The measure would be achieved by the quantitation of an array of biomarkers in body fluids of subjects with autism and of neurotypical, age- and sex-matched control individuals. A ranking of the degree of autism can then be determined, and the contribution of each of the biomarkers to the diagnosis. A physician could use the resultant profile to treat each patient. 

Q: Dr. Brian Strom was critical of your work in a CBS News piece. He was quoted as saying that "the prevailing medical opinion is that vaccines are scientifically linked to encephalopathy (brain damage), but not scientifically linked to autism." Given your understanding of autism, is Dr. Strom being dogmatic or playing with semantics? 

A: Perhaps Dr. Strom is playing with semantics.  There is great encephalopathy in autism. They are not separate entities.

Q: You tackle the vaccine-autism connection in your Causes paper. Yet, many assert that the vaccine-autism relationship has been "asked and answered" and state that an overwhelming amount of science has explored this issue and found no relationship. Do you agree? 

A: I do not agree. The data show that when more vaccines were given, and were given at earlier ages, the incidence and prevalence of autism increased.  There are many aspects of vaccines that cause autism. Some components of vaccines are toxic, such as the mercury in thimerosal, a preservative that is still present in some vaccines, the most pertinent being influenza, which is given to pregnant women. The fetus is thus exposed to mercury, a nerve toxin, when the brain is in its most formative stages.  In addition, the pertussis component of the DPT vaccine integrates into the G proteins, which are regulatory proteins, inhibiting their function. Furthermore, the heavy metal (Aluminum) in the adjuvant(s) accompanying the vaccine(s) is toxic.

Q: What is your basis for suspecting human DNA within certain vaccines might cause autism?

A: When thimerosal was removed from most childhood vaccines, there was still a rise in incidence and prevalence of autism. 

About the same time as the removal of thimerosal, some vaccines (such as MMRII [measles, mumps, rubella], and, a little later, Varicella zoster [both given to your son]) were made in human tissue. When a virus matures and divides (grows), it has some of the DNA in it from the cells in which it was grown.  When the virus is incorporated into the vaccine, it has human DNA in it, and this vaccine with the human DNA is injected into another human. Because the new DNA is from the same species as the recipient of the vaccine, homologous recombination of the DNA occurs. The body of the recipient recognizes that self has been altered, and the immune response kills the altered self (inflammation). Now the recipient has an autoimmune response in his body, which continues throughout life. 

It is critical that vaccines not be given to immunologically incompetent or compromised individuals. It would be very helpful if the vaccine schedule were delayed until the immune response of the child is more mature. 

Dr. Ratajczak wrote back to add the following: In "sleeping on" our interview, I fell it important to tell you that although there is no doubt that human DNA is in some vaccines (The information is available not only through , but from Wikipedia and other sources.), to my knowledge there is no data published in a peer-reviewed journal that documents homologous recombination in the body of autistics.  That part is theory.  The theory is based on facts, but, so far as I know, there is no direct connection between homologous recombination of DNA and autism.You see, it is logical that the homologous recombination would cause an autoimmune condition.  Many scientists consider autism to be an autoimmune condition, like rheumatoid arthritis, for example.

This information is a more complete explanation of the importance of the possibility that homologous recombination is a cause of autism.  Homologous recombination could explain the epidemic of autism.

Q: Dr. Strom goes on to say, ""This is a review of theories. Science is based on facts. To draw conclusions on effects of an exposure on people, you need data on people. The data on people do not support that there is a relationship. As such, any speculation about an explanation for a (non-existing) relationship is irrelevant." Are your papers irrelevant?

A: My two review articles about autism are very relevant. The manuscripts are both based on facts, data presented in articles in peer-reviewed journals, with each aberrance mentioned about autism being significantly different from those of age- and sex-matched neurotypical controls. The data support several relationships between adverse reactions to vaccines and autism.

Q: As a father of a child with autism, I was deeply moved by your biomarkers paper because it reminded me of how sick my son really is. Is it fair to say that most children with autism are medically ill? 

A: Yes, most children with autism have associated medical conditions.

Q: Your “Causes” paper considers many different possible causes for autism. Using the simple 80/20 rule of life, do you feel like you are in a position to calibrate the likelihood that certain of these causes are either more or less likely to impact children than others? Said differently, how would you rank research priorities in getting to the bottom of causation?

A: To rank causation, I would first measure biomarkers that are in statistically different concentrations in autistic individuals than in age- and sex-matched neurotypical control subjects. The different concentrations of the biomarkers are the result of environmental insults to genetically-prone individuals.  In at least some cases the biomarkers are specific for certain types of insults. Those environmental insults are the causes of autism. 

Q: If it was discovered that vaccines did indeed cause autism, how do you think the pharmaceutical companies that make vaccines would handle this news? 

A: If the data clearly prove that vaccines cause autism, I think the wise pharmaceutical companies would carefully study the data, design vaccines that would be more safe, do safety tests on animal models prior to clinical safety tests, and recommend appropriate schedules for vaccination (wait for the child to become more immunologically mature before giving vaccines, and withhold vaccines from any individual who is sick or has a fever until he recovers).

Q: Many characterize autism as a mystery and a puzzle. Do you agree? 

A: Autism is very complicated, but I do not think it is a mystery or a puzzle. Many of the genetic predispositions, environmental insults, metabolic pathways, immune dysfunction, etc. that contribute to autism are well-known. 

Q: The vaccine-autism connection continues to cause extreme fractures within the autism community. If you could structure 2-3 studies to try to put this debate to rest, what would they look like?

A: It would be helpful to use a non-human primate model of autism to study different aspects of vaccines: the effect of the different components of each vaccine (the antigen [such as bacterium or virus] itself, the adjuvant, the route of administration); the effect of giving multiple vaccines at the same time versus giving them individually with a resting interval in between injections; the effect of combining live virus vaccines (such as measles, mumps and rubella) or giving them in close sequence time-wise; the timing of the injections with respect to the age of the host; measuring the maturity of the immune system before administering the vaccine; studying the sequelae of each vaccine over time - in short, doing appropriate safety testing.

Q: How do you feel about the calls for a study of never-vaccinated children? 

A: The data show that the prevalence of autism in never-vaccinated children is approximately 1-5/10,000, similar to that when autism was first described in 1943 by Kanner. I do not think more study of this aspect is needed. Vaccines provide protection against some devastating diseases.  However, as stated in the Hippocratic Oath, "it is first important to do no harm". The safety testing is critically important prior to the use of vaccines clinically.

Q: Your summary of biomarkers left me feeling that we perhaps know more about these kids than we thought. How does the scientific community take this disparate knowledge to the next level and make it cohesive and actionable? 

A: My suggestion of the determination of an objective measure of autism does just that. The array of biomarkers to be measured must be comprehensive of the manifestations of autism. The result will be an individual profile for each subject with autism that can be used therapeutically. The proof of concept has been shown in two settings already (1) increasing melatonin in patients with too low concentrations and 2) increasing deficient components of the methionine pathway. In both cases, the symptoms of autism improved when reconstitution of the deficient biomarkers was made.

Again, my heartfelt gratitude to Dr. Ratajczak for her pioneering work.


Posted by Age of Autism at May 09, 2011 at 5:45 AM in JB Handley , Science Permalink

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