In Search of Another Hidden Horde, Autistic Children with Mito?
April 28, 2008 by Kristina Chew, PhD
Filed under Health
In the past several months, more and more scientific studies have added evidence that disputes a link between thimerosal and rising autism rates, and that link autism to mercury. Concurrently, a number of studies offer further evidence about genetic of factors and autism. Also at the same time, proponents of the view that some external, environmental factor can be linked to what is called “regressive autism” have been on a steady campaign to redefine and “rebrand” autism. Journalist David Kirby, whose 2005 book Evidence of Harm is subtitled “Mercury in Vaccines and the Autism Epidemic: A Medical Controversy,” has been offering a number of new monikers for autism, including “Environmentally-acquired Neuroimmune Disorder” (”E.N.D.”) over a year ago and, more recently, “vaccine-aggravated mitochondrial disorder.”
Is mercury in retrograde—is it falling by the wayside—as the cause of autism just as “bad mothering” has?
Not even a year ago, Kirby, in investigating a supposed “autism cluster” in Northvale in northern New Jersey, was “[wondering] about known neurotoxins lurking just outside the school, and especially mercury.” Ever since he (in his own words in the April 27th Huffington Post) “leaked news of the Federal government’s admission that vaccines had triggered autism in a little girl named Hannah Poling,” Kirby’s focus has become mitochondrial disorders.
Mitochondria are the “fuel” of a cell that convert sugar into energy (and which, according to a new study in PLoS-Genetics, may also be a sort of “‘command center’” that decides cell division). At least 1 in 4000 people worldwide have mitochondrial deficiencies; the Mitochondria Research Society estimates that more than 50 million adults have diseases in which mitochondrial dysfunction is involved, and that of the 4 million children born each year in the US, “up to 4000 develop mitochondrial diseases.”
In his latest piece seeking to link vaccines to autism, Kirby argues that the case of Hannah Poling—whose underlying mitochondrial disorder was found to have been aggravated by vaccines, resulting in her developing autistic symptoms—is “neither isolated or unusual.” Kirby reports that one more child, “a young boy from New York,” also (like Hannah Poling) has “dysfunctional mitochondria” and was therefore “susceptible to autistic regression, triggered by a vaccine-induced overtaxing of the immune system.” Kirby highlights that this boy (whose name he does not mention) was “selected to replace Hannah Poling as the first-ever thimerosal ‘test case in so-called Vaccine Court,” after Poling’s case was withdrawn following the government’s concession. And now, this boy’s case has also been withdrawn because “just been found with many of the same unusual metabolic markers as… you guessed it, Hannah Poling.”
Besides not mentioning the name of the New York boy, whose father is Bob Krakow, the President of A-CHAMP (”Advocates for Children’s Health Affected by Mercury Poisoning”), Kirby does not mention—as Kev at Left Brain/Right Brain points out—that the medical report on Krakow’s son does not mention fever or raised temperature. As Kev writes,
If I recall correctly, it was a key part of the Hannah Poling scenario that the vaccines had given her a fever and it was this which aggravated her underlying mitochondrial disorder and in turn caused her autism. Alexander Krakow’s medical report mentioned no fever at all.
Kirby rather tries to suggest that Hannah Poling and Alexander Krakow are just the first of many hypothetical cases of autistic children who have an underlying mitochondrial condition:
“We want to pursue an additional theory, not a different theory,” the boy’s father told me. “We are by no means abandoning the thimerosal theory of causation but, in the context of the test case, the thimerosal theory would have eclipsed our other evidence, including evidence of metabolic dysfunction,” such as impaired mitchondria and low cellular energy.
Following the Poling concession, he said, “I saw right away that we needed to pursue the mitochondrial theory,”but the lead attorneys did not see it that way. “Perhaps they did not properly understand the concession, and believed the finding was of a rare, genetically caused mitochondrial disorder,” as the government contends. “I think they rightly want to keep clear focus on thimerosal in the test case, and not muddy the presentation with other theories.”
Or perhaps the thimerosal theory is seeming to be more and more a theory, and hypothetical?
Kirby then seeks to suggest that the fact that two children whose cases have been brought to the “Vaccine Court” by their parents, and whose cases have been withdrawn in order to “pursue an additional theory,” is enough to suggest that Hannah Poling’s mitochondrial condition is not so “rare” after all. Here his language shifts from the specifics of the mitochondrial conditions of two particular children, Hannah Poling and the second child, to speculation about estimated indefinite numbers of autistic children with these conditions:
Some estimates of mitochondrial dysfunction in children with autism range as high as 20%-30%. But among the regressive subset of cases (virtually all of the claims in Vaccine Court) up to half of the children might show signs of it.[my emphasis]
What is needed to support this latest theory of autism causation is to find, or to hope to find, that there is a sort of hidden hoard-like number of autistic children who also have mitochondrial conditions, or it’s not going to be so easy for Kirby and others to keep talking about a so-called autism epidemic.
Though if such children with such conditions are not found, it seems likely that some other cause will be, and that some will find a way to link it to vaccines.
But what causes mitochondrial differences. Is it because the mother ate too many liquorice allsorts during pregnancy?
For what it is worth there are many etiologies for what is currently described under the umbrella of autism. Some severe genetic conditions do come with a higher predisposition towards autistic symptoms, and to my mind you might as well call it autism because autism itself is nothing but autistic symptoms.
The real key to understanding autism is not going to come from genetics, but from understanding in more detail the various sub circuitry of the brain and how that interacts during development.
That will need some computing power to model and will be as difficult as climate science.
However it is known in climate science that small changes can be multiplied through the system and result in big effects. Now that I believe is how the genetics and other effects work in autism.
If however mercury were anything to do with it, most of the population of 19th century Industrial England would have been autistic, so one has to be realistic and have real life models.
It has everything to do with the way that neurones interconnect. and link up to perform the various funtions that they do. Autism doesn’t have neat border, it is a multi axial phenomenon, and I guess the more of the other factors, that end in what is described by symptoms as tourettes and OCD for instance, are counted in then the more realistic the models will become.
Questions concerning autism causation will be answered by scientific research conducted by scientists, not by journalists, classics teachers or neurodiversity bloggers.
There are many scientists and professionals who are of the view that environmental factors are involved in causing autism. Genetic susceptibility does not preclude the existence of environmental factors.
If 1 in 4000 people have mitochondrial abnormalities, and if every single one of them has “autism” and if 1 in 160 people has autism, then out of 4000 people, one will have mitochondrial abnormalities and 25 will have autism. At least 24 out of 25 cases of autism will not be in people with mitochondrial abnormalities.
It isn’t a surprise to me that the lawyers don’t want to persue this legal theory…yet. They first want to milk the thimerosal theory for all it is worth. Then milk the next theory and the next, and the next. So long as there is funding for legal fees they will be willing to pursue theories of causation.
Mitochondria are not the “fuel” of the cell. Rather, they are organelles (smaller parts) within cells that break down the fuel (glucose sugar molecules), in order to release the energy stored in the molecular bonds.
That stored energy is then used to rebuild ATP, molecules that work somewhat like a battery, providing energy in a number of cellular functions.
A simple analogy would be that the mitochondria are the charging units for rechargeable batteries.
Have you read what the scientists have been saying though? There is a lot of concurrence with what I say, where on earth do you think I get the information from in the first place?
One thing is for sure these things will not be answered by Harold L Doherty.
As for environmental factors it is quite possible that the environmental factors are parental ones and that genetic mutation enough to “trip the switch” in addition to natural genetic proclivity, is something that occurs before conception, so there you go, the field is open.
One thing is for certain, autism is not one single entity, but then you don’t have to ask me when you can ask the ‘real’ scientists.
Incidentally I am a bona fide member of INSAR
had to join to get a discount to the conference
This comment was posted by Annie:
My view is that trying to understand autism is like trying to understand something like aging, or personality, or cognition. It’s fine that there are researchers studying it. But I don’t expect easy answers that are broadly applicable.
I’m really sure that the lawyers are ever going to provide us any actual answers, Harold R. Doherty, especially if they continue poking their fingers in simply to get a piece of the pie, stirring everything up and creating chaos in the process. And angry, bitter people aren’t going to do us much good, either.
Kristina doesn’t have a fiscal dog in this hunt, and being a classics professor does not preclude her ability to understand or blog on issues related to the etiology of autism. The best science writers I know aren’t scientists. They are simply people with powerful and personally driven insight and a close affinity for the issues they discuss. I think that describes Kristina quite well and fully qualifies her to discourse on this topic.
I, on the other hand, am a scientist. And I very much appreciate Andrea’s clarification of the description of mitochondria. Exactly what I was thinking, Andrea.
And now, onward, with all people of good ideas and intellect and the ability to discuss without anger addressing the potential that lies in everyone and how we can work on that backdrop on behalf of ourselves and of our children.
Hello friends -
This is a complicated topic. I have no financial interest in this, other than if I can figure out how to heal my son, he might not need to be cared for his entire life. But lawsuit wise, I have nothing.
Here’s my take:
Our DAN (gloomy music!) told us that many of Luke’s lab results were indicative of mitochondria dysfunction well over a year ago. High ammonia, very skewed Krebs cycle metabolites, high aspartate aminotransfe, a very low BUN/creatine ratio. Some others, I think, but I remember these. I don’t know too many kids with autism (maybe 20), but among the biomed aware parents I know, values like my son are not unique in our group.
Does it mean my son has mitochondrial disorder/dysfunction? I don’t know; they do seem to point to energy use at a cellular level being less than optimal (or so I am told). Or anyways, that is one interpretation; what is so tough about this discussion is that it may be possible to have these biomarkers, but have mitochondria that are fine. (?) There are those on this board who likely have a much more detailed understanding of what these things mean than I do.
I’m not here to defend lawyers, or the journalists listed here, but coming to a greater understanding of the effect, and if possible causes, of children with metabolisms like these is, in my mind, a good thing. Perhaps there is a silver lining in any additional awareness they create, even if we don’t like how they go about it.
I could care less if vaccines ’caused’ this set of strange biological markers or not; but if more people are putting their eyeballs and brains into understanding them better, I am all for that.
Take care everyone!
- pD
PassionlessDrone, I’m not into DAN at all but I agree with your comment. Mito dysfunction can indeed be a biomarker in autism and I’m interested to see where this research goes. Hopefully more mainstream doctors will learn about the metabolic problems that are co-morbid to autism so people don’t have to fall into the hands of quacks in search of remedies for their kids.
“What is needed to support this latest theory of autism causation is to find, or to hope to find, that there is a sort of hidden hoard-like number of autistic children who also have mitochondrial conditions, or it’s not going to be so easy for Kirby and others to keep talking about a so-called autism epidemic”
Even more–to make this argument work, people need to show that people with mitochondrial diseases or disorders and autism are soley or mostly linked to vaccines. The existance of kids with autism and mito problems who clearly were not vaccine injured would be distinctly unhelpful to this arguement.
Mr. Kirby has been avoiding discussing this in detail. If there is a mito/autism link, there is very likely a group whose mitochondrial disorder manifested by other means than vaccines. Very likely as in, almost certainly. The question then remains, again, if mito-PDD exists, what fraction are clearly not vaccine injured?
He is either not asking the right questions or not reporting the important, but inconvenient, answers.
That is all in addition to the question of how many mito specialists are on board with the “mito-PDD” question. Is it proven and accepted as Dr. Poling asserts?
I think that one of the problems with this whole mito issue is the stretch that some people are making with correllation trying to equal causality (gee that fallacy pops up everywhere).
It may be that some autistics have mitochondrial disorders. Mito may result in autistic symptoms, among other things. That would mean that it is a subset of the many causal agents; we know of other genetic issues that can also cause autistic symptoms.
Pardon the analogy (I know that it has been made before, to bad end, and that’s not what I’m using it for here), but “autism” is probably a catch-all term for a collection of symptoms, in much the same way that “cancer” is a catch-all term for a collection of symptoms. That’s not to say that autism is horrible like cancer, but rather that it’s a broad term indicating a number of different things with different aetiologies that can result in something we currently describe in a single term.
There are some things that seem to co-occur with autism. It may be that for example, coeliac has a higher incidence among autistics than in the rest of the population. That does NOT mean that coeliac causes autism, nor that all autistics will benefit from a GF (or GFCF) diet.
Probably mito does not “cause” autism [in all autistics], but some of the symptoms can be parallel to our current diagnostics.
All of the current research shows that autism is a polygenic condition, and when we look at the wide variety of issues faced by autistics, and the wide variation in function/dysfunction, it is obvious that one person’s “autism” is not exactly like another’s.
So in addition to different combinations of genes that interact (some of which can suppress or activate others), there are also the ontological issues of the development of the foetus, and the subsequent development of the child.
We can’t help our genes, but we can improve the environments that our family members will grow up, learn, and work in.
Should we be searching for what causes Autism? Of course. Given the fact this is a recent epidemic we know something in the environment is causing the problem and not genetics, otherwise, this would be a common condition going back 100’s of years. Common sense suggests the powers that be know which environmental pollutants are to blame for this epidemic and they’re working to protect the guilty parties rather than fix the problem. Case and point, the immunity given to Eli Lilly over litigation. If they didn’t harm anyone, why would you need to give them immunity from litigation (harming people)? There are dozens of examples that one can give where our government has caused harm to the public and where the public has had no recourse (military testing whole communities to viruses, nuclear tests that harmed hundreds of thousands down-wind, etc) Not to mention the fluoride scam, the dumping of a toxic waste more toxic than lead into our water and the mountain of studies that suggest even 1PPM of fluoride causes a host of problems (destruction of enzymes not a good thing). It is my theory that high fluoride levels damage the digestive and elimination systems of children and allows the toxins like Mercury to cause brain damage. Why isn’t this logical theory being studied? Maybe because fluoride waste is a national security issue perhaps that could financially ruin industries needed for national security? Just a hunch.
Andrea’s explanation of mitochondria, while correct is somewhat simplistic. Mitochondria are anything but simple. They have about 2000 different proteins. Mitochondria are different depending on what type of cell they are in. Liver mitochondria are different from muscle mitochondria, are different from nervous system mitochondria are different from fat cell mitochondria. Some of these differences are known. For example nervous system mitochondria don’t oxidize lipids. Muscle mitochondria do oxidize lipids. Why is there that difference? That is a good question that no one knows the answer to.
Mitochondria don’t metabolize glucose directly; glucose is first broken down in the cytoplasm to pyruvate or lactate (a 3 carbon acid). ATP is generated when glucose is broken down to lactate (that is called glycolysis). Cells can get ATP from glycolysis without mitochondria and without O2 (mitochondria require O2 to generate ATP). Some cells such as muscle can do both, make ATP with mitochondria while also making ATP from glycolysis and export lactate into the blood. The liver can take up lactate and turn it back into glucose (but that takes mitochondria and O2).
Elevated lactate is a sign of not enough mitochondria. There may be nothing wrong with the mitochondria, just that there are not enough of them to do what it is the tissue compartment they are in is calling on them to do. For example in muscle there is a pretty well defined threshold where muscle starts to make lactate because it is generating consuming ATP faster than it can be made by mitochondria. It makes up the difference from glycolysis and exports the lactate into the blood where tissues such as the brain take up the lactate preferentially to glucose. Oxidizing glucose to CO2 makes 36 molecules of ATP. Breaking glucose into 2 molecules of lactate makes 2 molecules of ATP. Making lactate in muscle and oxidizing it in the brain increases the amount of ATP that muscle can produce for a given amount of mitochondria.
Mitochondria in the liver are where amino acids are deaminated and turned into glucose. Inside liver mitochondria is the only place where urea is made from ammonia. Excess ammonia indicates insufficient liver mitochondria, or insufficient liver ATP levels (it takes ATP to make urea). Excess ammonia is a common effect of liver injury, or liver cirrhosis. Excess ammonia can also occur from eating too much protein. Any excess protein is deaminated and turned into glucose. If the supply of protein exceeds the capacity of the liver to turn the ammonia into glucose then the ammonia can only accumulate. The kidney has some capacity to excrete ammonia as does the skin.
Mitochondria do lots of synthetic operations. All hemes are made in mitochondria as are all iron-sulfur complexes that are the active part of many enzymes.
There are only 13 proteins that are coded for by mitochondrial DNA. These same 13 proteins are coded for in essentially all mitochondria in all animals with only a handful of exceptions. Why these and only these proteins are coded for by mtDNA is not understood. I suspect it relates to control and regulation of mitochondria.
In addition to generating the vast bulk of ATP for cells, mitochondria are also responsible for triggering some types of apoptosis, or programmed cell death. When a cell’s metabolic capacity becomes compromised due to damage, there are some circumstances where it will undergo apoptosis. This is an active process that takes the cell apart in a way that is “safe” for the surrounding cells, doesn’t cause inflammation, and doesn’t leave scar tissue. The alternate mode of cell death, necrosis, does lead to local inflammation and damage to surrounding tissues, and does leave scar tissue.
When mitochondria are responsible for doing hundreds or thousands of different things, there are hundreds or thousands of different ways that those mitochondria can not be doing those things exactly right. The state of understanding of mitochondria and their regulation is insufficient to be able to tell (in most cases) what (if anything) is going wrong.
In the case of Hannah Poling, it is not clear if she actually has a mitochondrial disorder or not. She does have a difference in one of her mitochondrial genes, but so does her mother and her mother doesn’t have any apparent symptoms of a mitochondrial dysfunction.
What worries me is where people sieze on one particular possible cause of autism and push that as if it were responsible for 100% of autism. That is like saying that 100% of blindness is caused by cataracts.
Blindness like Autism is a spectrum, in this case of visual impairment. It is measured by visual acuity and field of vision, and other functional factors, none of which tell you what the causation is.
People should accept Autism in the same way accept Blindness (or the spectrum of visual impairment).
There are some people whose blindness is part of much greater syndrome of physical impairments, for whom the sum total of all of that is going to be more challenging than to a person with simple blindness. Autism is like that if only people could stop and see through the emotions that it is logical to see it this way.
And then of course there is some blindness that is invisible and inexplicable, like my right eye which physically is fine but is funtionally blind.
Andrea wrote:
“one of the problems with this whole mito issue is the stretch that some people are making with correllation trying to equal causality”
That also applies to the polygenic hypothesis you also wrote about. Leprosy susceptability is also polygenic but the cause is exposure to to the bacteria, myobacterium laprae.
In fact, the genetic data published over many decades mirrors the genetic data published in autism research. High concordance rates in MZ twins ( 60-85%) and a rapid fallof in concordance rates in fraternal twins ( 5-20%) , similar sibling risk ratios and high heritability estimates of 80%.
http://www.nature.com/ng/journal/v27/n4/full/ng0401_439.html
pD, you mentioned “eyeballs and brains”—hearts and minds too…….
another question is: to what extent is mitochondria disorder/dysfunction/disease seen as a cause, or a contributing cause, for other disorders?
Daedalus2u, thanks for the details. I was on a too-brief lunch break and didn’t have time for the whole pyruvate et cetera.
RAJ, I’ve seen you reference the leprosy-resistance before, but I still don’t see what parallel you are trying to make. Most genes are inherited as alleles from both parents, and resistance/susceptibility/tolerance factors to some things can be heritable. So what’s the point? Autism is not an infectious disease, unlike leprosy.
RAJ’s point is that the heritibility of leprosy is virtually indistinguishable from the heritibility of autism. We do know that leprosy is caused by an infection, an obvious environmental trigger.
So far the work on environmental triggers of autism is extremely poor. It has been a process of elimination chased primarily by people with agendas.
All work on triggers of autism, genetic, environmental, or physiological, are all processes of elimination by people with an agendas.
Clarification needed
The US government rightly identified mitochondria as being linked in some way to autism.
David Kirby and everyone do not doubt this.
Mercury does not just magically destroy and take out brain cells clinically and cleanly leaving the patient autistic.
Mercury is a mimic along with many other metals and chemicals which has a swathing action inside our bodies.
Mercury is catalytic, enzymatic, call it what you will.
One of its known actions is on the red blood cell formation which resides in the mitochondria.
Damage to mitochondria is the price we pay for exposure to mercury whether from vaccines or elsewhere.
Destruction of mitochondria by mercury does not of itself destroy our brain cells.
But in a collateral damage action while some of the mercury is destroying mitochondria, why shouldn’t the rest of the worlds most toxic non radioactive element attack and destroy brain cells?
And when particular environmental triggers are noted, they also are frequently connected to other conditions; perhaps such “triggers” are not specific to autism exclusively.
Harold Doherty said,
“Questions concerning autism causation will be answered by scientific research conducted by scientists, not by journalists”…
————————-
Glad that you brought up the journalists. I might extend the statement to lawyers.
It has been a little over a month since many folks barely knew what a mitochondrion was, and are now asserting prevalence and etiology?
Dr. Poling has had his moment on the soapbox and now Drs. Shoffner and DiMauro have spoken back about jumping to conclusions. The question that I have is, if and when the scientists come through with the research, and if it should not show relation to current asserted causation, would we listen?
As far as David Kirby’s assertions of percentages, the relevance comes in relation to the percentages in the general population, and I believe even in that case only shows differences between groups, but not necessarily causation either without direct evidence.
@Fryer:
“The US government rightly identified mitochondria as being linked in some way to autism.”
This is incorrect.
Andrea asked:
“RAJ, I’ve seen you reference the leprosy-resistance before, but I still don’t see what parallel you are trying to make. Most genes are inherited as alleles from both parents, and resistance/susceptibility/tolerance factors to some things can be heritable. So what’s the point? Autism is not an infectious disease, unlike leprosy”
Let me try and be clearer. Leprosy is a Gold Standard model for a gene-environment interaction model. When you compare side by side decades of genetic research in leprosy and autism and note the sartling similarity between the published data what it suggests is that the genetic theorists in autism, because of their inherent bias towards genetic explanations, may have resulted in misinterpreting the meaning of what genetic research in autism is telling us.
The polygenic theorists have promulgated for decades the notion that there is no environmental component involved in the etiolgy of autism based on making hypothetical assumptions. This may have led to making false assumptions and misleading conclusions about the meaning of the genetic research in autism.
The environmental component in autism is much more complex than is found in leprosy which has a single environmental pathogen. In autism there is a multitude of environmental insults that have been identified and accepted by most autism researchers as part of the environmental component, save the polygenic theorists who cling to a single unproven model for which there is a lack of evidence.
The say that autism is not an infectious disease, like leprosy, is also somewhat misleading. The environmental component in autism has many pathogens linked to autism, including prenatal rubella infection:
http://neurodiversity.com/library_chess_1971.pdf
BTW among the similarities between the published genetic data found leprosy and autism I would also add that in leprosy there is also an unexplained high male to female ratio (3:1).
http://www.scielosp.org/scielo.php?pid=S0042-96862001000400007&script=sci_arttext