Is EMR the stressor which causes this?


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


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Posted August 11, 2008 | 08:10 PM (EST)
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*BOTH MITOCHONDRIAL "DISEASE" AND "DYSFUNCTION" APPEAR TO BE MORE COMMON
THAN PREVIOUSLY THOUGHT -- IMPLICATIONS FOR AUTISM, OTHER DISORDERS ARE
"EARTH SHATTERING."*
**

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.
<http://www.ajhg.org/AJHG/abstract/S0002-9297%2808%2900402-3>

"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.
.
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.



Paul Raymond Doyon
Language Acquisition Expert
MAT (TESOL), School for International Training
MA Advanced Japanese Studies, University of Sheffield
BA Psychology, University of California
http://www.geocities.com/Tokyo/Island/5165/paulcv6.html



Informant: Martin Weatherall



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