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



 
 
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Old August 12th 08, 07:02 PM posted to misc.health.alternative,talk.politics.medicine,sci.environment,misc.kids.health,sci.med.nursing
Ilena Rose
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Default "Revolutionary" News From Medicine: 1 in 200 People Carry Mitochondrial Disease Mutation

Important news from Health Lover, Ilena Rosenthal, Director of
Humantics Foundation
http://ilenarose.blogspot.com
www.BreastImplantAwareness.org

Regarding the Hannah Poling case ... the Snake-oil Vigilantes such as
fake skeptic David "Orac does NOT know" Gorski and other vaccination
propagandists, have made the false claim that mitochondrial mutations
are very rare.
www.BreastImplantAwareness.org/Snake-oil.htm
List of Stephen Barrett, Mark Probert, David Gorski, Terry Polevoy and
others who spend vast amounts of time as promoters of vaccinations and
other dangerous drugs and who bully their viewpoint and insult those
of us who have deep and very realistic concerns about vaccine safety.

http://www.huffingtonpost.com/david-..._b_118307.html

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.
http://www.ajc.com/opinion/content/o...nged_0812.html

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.
..
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.
 




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