FW: [autisminfo] Kirby: Revolutionary News From Medicine: 1 in 200 People Carry Mitochondrial Disease Mutation

[Guest guest]

naapa@...: naapa@...: Mon, 11 Aug 2008 20:48:40

-0400Subject: [autisminfo] Kirby: " Revolutionary " News From Medicine: 1 in

200 People Carry Mitochondrial Disease Mutation

http://www.huffingtonpost.com/david-kirby/revolutionary-news-from-m_b_118307.htm\

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

Disease MutationPosted August 11, 2008 | 08:10 PM (EST) By KirbyBOTH

MITOCHONDRIAL " DISEASE " AND " DYSFUNCTION " APPEAR TO BE MORE COMMON THAN

PREVIOUSLY THOUGHT -- IMPLICATIONS FORAUTISM, OTHER DISORDERS ARE " EARTH

SHATTERING. " In February, when the US government conceded that vaccines had

caused an autism-inducing reaction in little HannahPoling, 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 today, the

United Mitochondrial Disease Foundation announced a " landmark research finding "

showing that at least onein 200 healthy humans " harbors a pathogenic

mitochondrial mutation that potentially causes disease. " The finding

waspublished in the current issue of the American

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

Genetics. " This is earth shattering news, " UMDF Executive Director and CEO

A. Mohan, Jr. told me this evening. " Some of mycolleagues are calling it

'revolutionary.' We have shown that mitochondrial disease is not

rare. " Mitochondria are the little powerhouses found within most cells and are

responsible for producing most of the body'senergy. Mitochondria are key for

proper neurotransmission and, for obvious reasons, are highly concentrated in

cells ofthe 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 showsthat 20 times that number have genetic mutations that could cause

mitochondrial disease. " What this says to me is that many more than 1-in-4,000

people have mitochondrial disease, " Mohan said. " And it tells methat 1-in-200

could develop some type of mitochondria-related disease over the course of their

lifetime, depending inpart on environmental triggers. " Mitochondrial disorders

are found at " the core of many well known diseases and chronic illnesses, such

as Alzheimer'sdisease, 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

areknown 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 ofmitochondrial 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 isapparently benign (Terry Poling is just

fine), is not described in the medical literature, and is not associated withany

pathology at all. Instead, Hannah seems to have had a much milder, even

asymptomatic form of mitochondrial " dysfunction " - one that led toreduced

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 nearlyidentical 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

showingsigns of regressive autism soon afterwards.In 28 cases, the doctors said,

typical childhood fevers caused the stress, while in the other two cases,

includingHannah, vaccines appeared to be the exacerbating factor.The doctors -

who spoke on a CDC conference call that included executives from the health

insurance industry -- reportedthat 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 autismcases could climb much higher than that.This milder form of

mitochondrial disorder, the doctors said, was probably caused by a mutation

found in nuclear (asopposed to mitochondrial) DNA, and inherited through the

father -- rather than through the mother, as in classicmitochondrial

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 " described in this study (via

mutations in maternalmitochondrial DNA) and mild mitochondrial " dysfunction "

found in Hannah and others (via mutations in paternal nuclearDNA) 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

cellularenergy originates in mitochondrial 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, "

theUMDF statement said, noting that it also has been implicated in autoimmune

diseases such as multiple sclerosis andlupus. ' " While it cannot yet be said that

mitochondrial dysfunction causes these problems, it is clear that mitochondria

areinvolved because their function is measurably disturbed, " the statement said.

This new study shows that, " mitochondrial dysfunction is a major underlying risk

factor for human disease, " said Dr. C. Wallace, professor of molecular

medicine and director of the Center for Molecular and Mitochondrial Medicineand

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'sScientific 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 thatover-vaccination of people with

mitochondrial disorders was a deep concern, especially in light of Hannah

Poling, whogot 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 arecreating a challenge for the system, " Dr. Wallace testified.

" And if a child has an impaired system that could in facttrigger further

clinical problems. " I take that to mean that children with impaired mitochondria

might also have impaired immune systems. And children withimpaired 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 nomention 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 actualrisk of a person with light mitochondrial disease has

and being challenged either by vaccination or by a severeinfection. " " Is there a

relationship between mitochondrial disease and vaccination and mitochondrial

disease and autism? " Dr.Wallace asked rhetorically. " Would a vaccination or

infection initiate an incipient mitochondrial disease, as has

beensuggested? " Only major investments in scientific research can answer these

questions. Now that we know that mitochondrial disordersare anything but " rare, "

I hope our nation's researchers will jump on this particular scientific train

before it leaves the station. It wouldappear that far more lives are at risk for

far more diseases than we ever imagined.[Non-text portions of this message have

been removed]

[Guest guest]

Good article, .  Thanks!

Check this link out too... Re the NO/ONOO cycle (no, oh no!)

http://molecular.biosciences.wsu.edu/Faculty/pall/pall_cfs.htm

[autisminfo] Kirby: " Revolutionary " News From Medicine: 1 in

200 People Carry Mitochondrial Disease Mutation

http://www.huffingt onpost.com/ david-kirby/ revolutionary- news-from-

m_b_118307. html " Revolutionary " News From Medicine: 1 in 200 People Carry

Mitochondrial Disease MutationPosted August 11, 2008 | 08:10 PM (EST) By

KirbyBOTH MITOCHONDRIAL " DISEASE " AND " DYSFUNCTION " APPEAR TO BE MORE COMMON

THAN PREVIOUSLY THOUGHT -- IMPLICATIONS FORAUTISM, OTHER DISORDERS ARE " EARTH

SHATTERING. " In February, when the US government conceded that vaccines had

caused an autism-inducing reaction in little HannahPoling, 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 today, the

United Mitochondrial Disease Foundation announced a " landmark research finding "

showing that at least onein 200 healthy humans " harbors a pathogenic

mitochondrial mutation that potentially causes disease. " The finding

waspublished in the current issue of the American

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

ofHuman Genetics. " This is earth shattering news, " UMDF Executive Director and

CEO A. Mohan, Jr. told me this evening. " Some of mycolleagues are

calling it 'revolutionary. ' We have shown that mitochondrial disease is not

rare. " Mitochondria are the little powerhouses found within most cells and are

responsible for producing most of the body'senergy. Mitochondria are key for

proper neurotransmission and, for obvious reasons, are highly concentrated in

cells ofthe 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 showsthat 20 times that number have genetic mutations that could cause

mitochondrial disease. " What this says to me is that many more than 1-in-4,000

people have mitochondrial disease, " Mohan said. " And it tells methat 1-in-200

could develop some type of mitochondria-

related disease over the course of their lifetime, depending inpart on

environmental triggers. " Mitochond rial disorders are found at " the core of many

well known diseases and chronic illnesses, such as Alzheimer'sdisease,

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 areknown 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 ofmitochondrial 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 isapparently benign (Terry Poling is just fine), is not

described in the medical literature, and is not associated withany pathology at

all. Instead, Hannah seems to have had a much milder, even asymptomatic form of

mitochondrial " dysfunction " - one that led toreduced 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 nearlyidentical 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 showingsigns of regressive autism

soon afterwards.In 28 cases, the doctors said, typical childhood fevers caused

the stress, while in

the other two cases, includingHannah, vaccines appeared to be the exacerbating

factor.The doctors - who spoke on a CDC conference call that included executives

from the health insurance industry -- reportedthat 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 autismcases could climb much higher than that.This milder form

of mitochondrial disorder, the doctors said, was probably caused by a mutation

found in nuclear (asopposed to mitochondrial) DNA, and inherited through the

father -- rather than through the mother, as in classicmitochondria l

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 " described in this study (via mutations in

maternalmitochondri al DNA) and mild mitochondrial " dysfunction " found in Hannah

and others (via mutations in paternal nuclearDNA) 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 cellularenergy

originates in mitochondrial 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, "

theUMDF statement said, noting that it also has been implicated in autoimmune

diseases such as multiple sclerosis andlupus. ' " While

it cannot yet be said that mitochondrial dysfunction causes these problems, it

is clear that mitochondria areinvolved because their function is measurably

disturbed, " the statement said. This new study shows that, " mitochondrial

dysfunction is a major underlying risk factor for human disease, " said

Dr. C. Wallace, professor of molecular medicine and director of the

Center for Molecular and Mitochondrial Medicineand 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'sScientific 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 thatover-vaccinatio n of people with mitochondrial disorders was a

deep concern, especially in light of Hannah Poling, whogot 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 arecreating a challenge for the system, " Dr. Wallace testified.

" And if a child has an impaired system that could in facttrigger further

clinical problems. " I take that to mean that children with impaired mitochondria

might also have impaired immune systems. And children withimpaired 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 nomention 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 actualrisk of a person with light mitochondrial disease has

and being challenged either by vaccination or by a severeinfection. " " Is there a

relationship between mitochondrial disease and vaccination and mitochondrial

disease and autism? " Dr.Wallace

asked rhetorically. " Would a vaccination or infection initiate an incipient

mitochondrial disease, as has beensuggested? " Only major investments in

scientific research can answer these questions. Now that we know that

mitochondrial disordersare anything but " rare, " I hope our nation's researchers

will jump on this particular scientific train before it leaves the station. It

wouldappear that far more lives are at risk for far more diseases than we ever

imagined.[Non- text portions of this message have been removed]