"Revolutionary" News From Medicine: 1 in 200 People Carry Mitochondrial Disease Mutation

BOTH MITOCHONDRIAL "DISEASE" AND "DYSFUNCTION" APPEAR TO BE MORE COMMON THAN PREVIOUSLY THOUGHT -- IMPLICATIONS FOR AUTISM, OTHER DISORDERS ARE "EARTH SHATTERING."

Note: To put a human face on this subject, I URGE you to visit this site.

ALSO - A roundup of this controversy, written by Hannah Poling's great aunt, was published in the Atlanta Journal Constitution.

In February, when the US government conceded that vaccines had caused an autism-inducing reaction in little Hannah Poling, most experts declared that her underlying condition, a mitochondrial disorder, was exceedingly rare - so rare, in fact, that it had no bearing on other autism cases.

But on Monday, the United Mitochondrial Disease Foundation announced a "landmark research finding" showing that at least one in 200 healthy humans "harbors a pathogenic mitochondrial mutation that potentially causes disease." The finding was published in the current issue of the American Journal of Human Genetics.

"This is earth shattering news," UMDF Executive Director and CEO Charles A. Mohan, Jr. told me. "Some of my colleagues are calling it 'revolutionary.' We have shown that mitochondrial disease is not rare."

Mitochondria are the little powerhouses found within most cells, and which produce most of the body's energy. Mitochondria are key for proper neurotransmission and, for obvious reasons, are highly concentrated in cells of the brain and central nervous system.

Up until now, estimates of mitochondrial disease rates have held steady at about 1-in-4000 people. But this study shows that 20 times that number have genetic mutations that could cause mitochondrial disease.

"What this says to me is that more than 1-in-4,000 people have mitochondrial disease," Mohan said. "And it tells me that 1-in-200 could develop some type of mitochondria-related disease over the course of their lifetime, depending in part on environmental triggers."

Mitochondrial disorders are found at "the core of many well known diseases and chronic illnesses, such as Alzheimer's disease, Parkinson's disease and autism spectrum disorders," a statement from the UMDF said today.

Humans have two types of DNA: nuclear, and mitochondrial. The study looked at 10 mutations in mitochondrial DNA that are known to cause disease, and identified them in the cord blood of 1 in 200 newborn children.
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The study looked exclusively at classic mitochondrial "disease." In the classic form, inherited mutations of mitochondrial DNA are passed down through the mother, causing a wide variety of pathologies, including seizures, digestive problems, paralysis, blindness, heart disease, neurodevelopmental disorders and other problems.

The classic form is often quite severe, and sometimes fatal. But it is not rare.

Which brings us to Hannah Poling: She does not have "classic," maternally inherited mitochondrial disease.

Hannah does share the same single-point mutation in mitochondrial DNA as her mother, Terry. But this mutation is apparently benign (Terry Poling is just fine), is not described in the medical literature, and is not associated with any pathology at all.

Instead, Hannah seems to have had a much milder, even asymptomatic form of mitochondrial "dysfunction" - one that led to reduced cellular energy, but no obvious signs of severe mitochondrial "disease."

In April, I reported that researchers in Baltimore were studying 30 children at one autism clinic who all had nearly identical markers for mild mitochondrial dysfunction. One of them was Hannah Poling.

All 30 children were developing normally until they encountered some type of immunological stress and began showing signs of regressive autism soon afterwards.

In 28 cases, the doctors said, typical childhood fevers caused the stress, while in the other two cases, including Hannah, vaccines appeared to be the exacerbating factor.

The doctors - who spoke on a CDC conference call that included executives from the health insurance industry -- reported that mitochondrial dysfunction was found in autism "in numbers that make it not a rare occurrence."

Some estimates currently put the rate of mitochondrial dysfunction in ASD at 7-20%, while rates among regressive autism cases could climb much higher than that.

This milder form of mitochondrial disorder, the doctors said, was probably caused by a mutation found in nuclear (as opposed to mitochondrial) DNA, and inherited through the father -- rather than through the mother, as in classic mitochondrial disease.

Shockingly, the nuclear DNA mutations that bring risk of dysfunction could be as common as 1-in-400 to 1-in-50 people - though no one knows how many people have developed actual mitochondrial disorders because of it.

Even so, we can now assume that classic mitochondrial "disease" desrcibed in this study (via mutations in maternal mitochondrial DNA) and mild mitochondrial "dysfunction" found in Hannah and others (via mutations in paternal nuclear DNA) are both associated with increased risk for autism.

And we can also now assume that neither form of mitochondrial disorder is rare. Moreover, whether the low cellular energy originates in mitochonrial DNA or nuclear DNA mutations, either way it could confer increased risk for autism.

That would mean a significant number of children between the ages of 1 and 2 who are walking around right now, potentially vulnerable to autistic regression triggered by some acute immune stressor - whether vaccine related or not.

"Mitochondrial dysfunction represents a major unexplored area of human biology of vital importance to human health," the UMDF statement said, noting that it also has been implicated in autoimmune diseases such as multiple sclerosis and lupus.

"While it cannot yet be said that mitochondrial dysfunction causes these problems, it is clear that mitochondria are involved because their function is measurably disturbed," the statement said.

This new study suggests that, "mitochondrial dysfunction is a major underlying risk factor for human disease," said Dr. Douglas C. Wallace, professor of molecular medicine and director of the Center for Molecular and Mitochondrial Medicine and Genetics at the University of California-Irvine.

He should know. Dr. Wallace is one of the world's leading mitochondria researchers, and a member of the UMDF's Scientific and Medical Advisory Board. He also has a 23-year-old son with autism.

In April, Dr. Wallace told the Vaccine Safety Working Group of HHS's National Vaccine Advisory Committee that over-vaccination of people with mitochondrial disorders was a deep concern, especially in light of Hannah Poling, who got nine vaccines in one well-baby visit.

"We have always advocated spreading the immunizations out as much as possible because every time you vaccinate, you are creating a challenge for the system," Dr. Wallace testified. "And if a child has an impaired system, that could in fact trigger further clinical problems."

I take that to mean that children with impaired mitochondria might also have impaired immune systems. And children with impaired immune systems might not be able to handle, say, nine vaccines given at once.

The CDC says that multiple simultaneous vaccines are safe, "for children with normal immune systems," but makes no mention of the risk for everyone else.

But, as Dr. Wallace put it, "We do not know what is safe. We do not know what is not safe. We do not know the actual risk of a person with light mitochondrial disease has and being challenged either by vaccination or by a severe infection."

"Is there a relationship between mitochondrial disease and vaccination and mitochondrial disease and autism?" Dr. Wallace asked the HHS panel. "Would a vaccination or infection initiate an incipient mitochondrial disease, as has been suggested?"

Only major investments in scientific research will answer these questions, which have become particularly pressing now that we know that mitochondrial disorders are anything but "rare."

"This will help us educate key members of Congress to motivate and encourage NIH to appropriate more funds to focus specifically on mitochondrial dysfunction and disease," Mohan told me. "We would like to see this result in a better understanding of the links between energy metabolism and what we call the "sexy diseases."

I likewise hope our nation's researchers will jump on this particular scientific train before it leaves the station.

It would appear that far more lives are at risk for far more diseases (well beyond autism) than we ever imagined.

Comments

[BlackJAC]

So all this time the accredited scientists who were actively and conscientiously working the problem in order to actually solve it were right and the self-righteous and -aggrandizing lawyer and his college-dropout-turned-nude-model celebrity spokeswoman who both jumped to post hoc ergo propter hoc conclusions and fanned the flames of hysteria were wrong?

[CraigWilloughby]

Are you implying that the people who said that Autism is genetic were right all along?

See everyone? What did I say would happen?

No, he's saying that the Neurologist who's daughter's case was said to be "unique" by the CDC is not, in fact, unique. Her condition is far more common than realized, and that all these parents who are saying that their children developed Autism after receiving a vaccine may be onto something.

[LindsE]

For the sake of accuracy, this study looked at mutations in mitochondrial DNA. Hannah's mutation was in nuclear DNA.

[AutismNewsBeat]

Unless you have data to back up that claim, you're still jumping to conclusions.

[BlackJAC]

No, those parents said that the vaccine caused the autism, and rather than take the time to verify the claim they chose instead to take up the torch and pitchfork and assail Big Science at the behest of a couple of limelight addicts because self-righteous outrage is far more fun than actually working the problem.

[AutismNewsBeat]

I think you summed it up well.

[msfiskvletterman]

8/12/08
5:51pm
UofO

Thank you for the article. Thank you for staying with this subject.

[msfiskvletterman]

8/14/08
1pm
University of Oregon

David, I think you deserve the Pulitzer Prize for sticking with this. Why your article is not on the front page I don't understand.
I just wrote a short paper for my genetics class and everywhere I turned for CURRENT info on the internet, your name came up and your writing was referenced. Not to mention your book--which was great.
I heard you speak at the New Canaan Library a few years ago because my son was diagnosed with autism at the age of 2 (he's now 17 and an excellent musician.)

[TimKasemodel]

lightandlove writes:

"when the (albeit slow) withdrawal of thimerosal didn't immediately show up in lowered rates of ASD"

I really want to stress this point - WE HAVE NO IDEA what has happened since infants have stopped recieving PRESERVATIVE LEVEL vaccines after 2003 when they expired and started recieving REDUCED levels of vaccine mercury. Trace level vaccines such as the Energix B Hep B vaccine are still given today at birth ( thimerosal free version only available begining Jan 2008, the existing stock still on docs shelves).

The rate of autism NEEDS to be looked at in an age cohort basis - this distinguishes what the individual recommended vaccine protocols have done to each age group.

In Minnesota, out of the nearly 1,500 new cases of kids recieving autism services in 2007, 779 were kids 6 to 17, born prior to 2003, and recieving the adolescent schedule still containing preservative level vaccines. The MN rate for kids born in 2000 is 1 in 75. The rate for kids born in 2004 at age 3 (in 2007) was 1 in 275. We have no idea if the rate of autism for kids born in 2004 or later will reach even the stated 1 in 150 so to say the rate has not droped is impossible to say.

In fact, if you compare birth cohort data and ages of diagnosis , the rate increased each year UNTIL 2004 where it leveled off - even with efforts to diagnose at younger ages, they

[lightandlove]

Thanks, Tim, for your info on the mutagenic properties of thimerosal/mercury. The pieces would appear to be starting to come together - no thanks to the PTB, who generally seemed to be content to let sleeping dogs lie, not wanting to jeopardize their vaunted medical modality of vaccines and their scheduling. But thanks to such as the Mercury Moms, this matter was not allowed to be swept under the carpet. We're all the better off for the research that they have inspired.
I would just point out that fluoride also has mutagenic properties - it is an enzyme disrupter, and is thus linked into potential DNA damage. And since it is linked into IQ lowering, it could well be linked into mitochondrial damage/dysfunction as well. So there are a number of environmental influences to take into consideration in this matter. But the key point in this article is important to 'land' right now: that we can engage in screening, with the various biomarkers being discovered, along with genetic factors, to keep the subset kids from potential harm. Thanks to such as Hannah Poling's great-aunt - and the AJC - for emphasizing the need for safety matters to be brought to the fore. And thanks to David Kirby, for not folding when the (albeit slow) withdrawal of thimerosal didn't immediately show up in lowered rates of ASD. (How clever of them to include in the schedule the flu shot, with its load of mercury.) May the gains in this matter continue.

[nogggin]

Don"t mutations occur all of the time? Aren"t they as natural as death? Isn"t that how evolution occurs?

When I hear people speaking of the genetic mutations that some subset of the population has, that leaves them vulnerable to vaccine damage, I ask myself why they"re wording this the way they are. Words such as "pathogenic mitochondrial mutation that potentially causes disease."

Would it "potentially cause disease" if there weren"t the exposure to toxins? Is there any reason NOT to ask that question? And yet, you don"t hear it asked.

Unless there is something here I"m failing to grasp, isn"t it all a bit like saying that a certain small percent of red haired people will be damaged by exposure to some toxin, therefore they have this "pathogenic gene makeup" that could "potentially cause disease" and then, instead of focusing on the toxin, focusing on the red hair? It just doesn"t seem to make much sense to me.

What I don"t understand is, what is the point of trying to tie the disease to the genes, if the genes aren"t really the culprit, the toxin is?

Or, to put it another way, and I see now that I"ve read the previous comments I"m not the only person to ask this question"rather than the gene mutation causing the damage, could the damage be causing the gene mutation?

I"d be curious to find out what the incidence of this particular DNA mutation is in the unvaccinated population.

[holler4health]

thanks again for your excellent work in bringing this super important news to light. For all those with heart disease, it is important to know that cholesterol lowering medications known as "statins" deplete coenzyme Q10, which is essential for proper functioning of the mitohondrial. Beta-blocker heart medications also do this. It is very simple to replace with over the counter supplements.
Teresa www.holler4health.com

[TimKasemodel]

"The study looked at 10 mutations in mitochondrial DNA that are known to cause disease..."

"Would a vaccination or infection initiate an incipient mitochondrial disease, as has been suggested?"

Now consider this - remembering parents were also exposed to vaccine thimerosal and other Hg exposures:

Thimerosal (and all mercury) is a "MUTAGEN" and "ALTERS GENETIC MATERIAL" that CHANGES THE GENETIC INFORMATION (usually DNA) of an organism and thus increases the number of mutations above the natural background level.

After the 1972 mercury poisoning in Iraq, there was widespread concern over the use of mercury fungicides in seed dressing. The ETHYL MERCURY fungicide Ceresan M, was tested to study its mutagenic potentialities and resulted in a significant increase in the frequency of sex-linked recessive lethals .¹

Another one studying both lead and mercury reported that low, subthreshold concentrations are mutagenic in transgenic Chinese hamster ovary cells. At concentrations equal to or less than 0.4 microM, the majority of the mutations in the gpt gene were point mutations, while at higher concentrations, DELETIONS (partial and complete) were the prominent type of mutation. ²

1) The mutagenic effect of the mercury fungicide Ceresan M in Drosophila melanogaster.
Mathew C, Al-Doori Z.

2) Lead and mercury mutagenesis: type of mutation dependent upon metal concentration. Ariza ME, Williams MV.

Is it possible that increased environmental and medical mercury exposure has "initiate an incipient mitochondrial disease"???

Sure looks possible to me.

[JeanneCant]

Mr. Kirby,

It really is like watching a great boxer take out his opponent - left hook, right hook, upper, another left. The opponent is swaggering under the onslaught. One great hit after the next. I dare say it won't be long before the big guy falls flat on his face, a count is given, and an arm is raised in victory.

Thank you, again (and again) for your persistence and determination to get the truth out there to the masses. You are, as I've said before, a hero to many (myself included).

Jeanne

[CamJam]

Thank you for another outstanding informative article Mr. Kirby. It brings some hope...but I'm not holding my breath...
I just don't think Congress or anyone for that matter is going to do anything about any of this unless Autism (for instance) were contagious.

[AutismNewsBeat]

The study's authors have only shown that one in 200 people has a mutation in a mitochondrial gene that could lead to disease, but only if it is homozygous.

If 1 in 200 people has a mutation in the same gene, the risk of passing that on to offspring is 1:160,000.

0.005 * 0.005 * 0.25 = 0.00000625 (1 in 160,000)

[Olerist]

As the UMDF stated not a lot is known about the expression and more research needs to be done.

your assumption seems to be predicated on "disease" only being expressed in a simple recessive homozygous pairing

In addition to disease what about dysfunctions expressed from heterozygous pairings, incomplete dominance effects or multiple factor gene inheritance which could potentially create a "spectrum" of phenotypic pairings and expressions?

[CraigWilloughby]

Reading comprehension skills, Ken. Remember? We talked about them.

The study says 1 in 200 PEOPLE. That includes men, women, teenagers, parents, children. Right now, if you were to walk out on the street and meet 200 people, chances are, one of them would have this mitochondrial mutation.

[AutismNewsBeat]

Are you taking issue with the math?

[bluevalentine]

Fuzzy math.

[LindsE]

You all may want to revisit the differences between mitochondrial and nuclear DNA and how each is inherited.

[foe2Hg]

This is a wow! Thank you David for explaining this so well and with the good sense of urgency that it deserves.

It also re-opened up that painful place that we parents have to deal with. The realization, again, that this is a real, medical issue with our kids that many in the medical field are denying. Those who would like to keep it in the DSM domain, the psychiatrists and pediatricians, etc. who have not "gotten it", maybe now will realize that the reason little Johnny banged his head was not "because he has autism" but because he has intense pain and inflammation in his brain. That is a huge reality in my life as my daughter has had self-injurious behavior (as "they" like to call it--but maybe that too should be renamed--to maybe a more appropriate term, like *pain, that has for decades been ignored as a psychiatric manifestation from a list of behaviors*)--and that is bullshit.

I know this has implications for MANY neurological and inflammatory diseases/disorders but watching these toddlers disappear into an abyss of pain and isolation should make the mitochondria-vaccine/environment -autism connection a top priority in research. Since vaccines can tip the scales to exacerbate the mitochondria dysfunction or the very likely other way around, vaccines causing the mitochondria damage, research is imperative.

Our children are the canaries in the coal mine and it must stop!

Teresa

[ExRepublican]

HuffPost's Pick

David,

Thanks. This is H-U-G-E (good) news. Not just for autism - I wonder why they focused on this so much ? when in reality - mitochondrial damage has been associated with cancers, Alzheimer's, Parkinsons, many neuro illnesses, CFS/ME on and on and on.

There have been doctors screaming this for years. There is a lot of politics in science. Finally, we can move forward. Although, it'll take years if not decades to figure it all out. The next generations should love this one. Medicine will move forward with this latest. This is a huge step forward. Wow.