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Autism: Did the word make you think of mitochondria?

Discussion in 'Other Health News and Research' started by Rosemary, May 31, 2010.

  1. Rosemary

    Rosemary Senior Member

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    Autism: Did the word make you think of mitochondria?
    by: Christine Younan

    from: Volume 3 (Spring 2010), pop - popular science

    http://catalyst.rice.edu/archives/category/volume-3-spring-2010/pop-popular-science

    For the past number of years, autism has been known to the general public as some vague disease of the brain, constituting various symptoms including abnormal social interaction, inappropriate communication, and the presence of stereotyped behaviors.1 This disease presents itself in a way that deems its origins worthy of some grand, subtle mismatched neural networks in the brain; however, it is only more recently that pediatric neurologists are looking beyond this seemingly too obvious origin of dysfunction to a more miniscule, mundane organelle: the mitochondrion. The mitochondrion provides a large alleyway for researchers of autism to begin their quest in seeking out the potential correlation autistic patients have with specific abnormalities in the mitochondria, an organelle present in numbers reaching the hundreds in nearly every cell of the body.

    The mitochondrion: I remember that having some sort of significance in general biology. Lets refresh. The mitochondrion is ultimately the cells powerhouse, producing vast quantities of adenosine triphosphate or ATP. In doing so, the mitochondria of the body break down carbohydrates and fats through a series of enzyme cascades and an electron transport chain. Because of the mitochondrias significant presence in the body and the necessary metabolic processes it performs, the consequences of defects in this precious organelle already seem remotely dreary. When the mitochondria are deficient in their performance, final end products from several metabolic systems may build up, causing in the metabolic systems themselves to shut down.1 Additionally, the mitochondria play a role in signaling the cell to apoptose (analogous to suicide). When the mitochondria becomes defected, it can signal the cells to prematurely begin apoptosis, which leads to invariably unhealthy effects on the tissue in the vicinity, and ultimately on the organism as a whole.1 A defect in the mitochondrion can also create reactive oxygen species that can be damaging to neighboring healthy tissues, as well as to individual cell function.1 Ultimately, the effects appear quite challenging for cells with such idiosyncratic mitochondrion, but how do these effects interact to produce the symptoms of autism?

    Because the mitochondria are primarily involved in production of cellular energy, the overall effect of the ill-suited mitochondria takes effect on the organs of the body that undergo ATP intensive processes. These processes include those of thinking, digesting, fighting off the latest strand of flu, and in short, many seemingly basic actions that require plethora of energy and complexity underlying their effectiveness. Therefore, a child with mitochondrial disorder may exhibit developmental delay, loss of developmental milestones (i.e., regression), seizures, muscle weakness, gastrointestinal abnormalities, and immune dysfunction.1 The overall presentation of these symptoms strongly resembles many of the multi-symptom effects of autism. Without even specific tests, the evident correlation of these two disorders makes it very probable that a child with autism may have mitochondrial disorder.

    The actual diagnosis of mitochondrial disorder involves a series of blood tests and urine sampling that are often unrealized by the lack of information. However, one significant marker of mitochondrial disorder manifested in autistic children is the elevated levels of lactic acid. The mitochondrion cannot break down the pyruvate in the cell, and so the pyruvate then is left with no other choice than to decompose into lactic acid. A study on the relationship between elevated levels of lactic acid, as well as other traditional markers, associated to mitochondrial disease with autism were performed in Portugal; children believed to have autism underwent a muscle biopsy and nearly 7% were found to have confirmed mitochondrial disease.1 This remarkable study is one of the beginnings of an increasingly founded belief that a subset of autistic children may have mitochondrial dysfunction been overlooked.

    Additionally, the connection of mitochondrial disease and autism can be vividly observed in the form of treatment applicable in both cases. Although medical treatments have truly improved, an exact remedy to mitochondrial disorder has not been prescribed. Certain vitamin supplements and diet adjustments, such as coenzyme Q10 (idebenone), are the essence of the treatment of this disease. The specific nuances in the prescription of treatments are based upon rational biochemistry and knowledge of what vitamins/ cofactors may supplement the defective enzyme machinery or which diet may provide the best fuels for the specific disorder.1 Such a treatment is analogous to the diet adjustments delineated for children diagnosed with autism.

    Clearly, autism and mitochondrial disease contain a series of parallel symptoms, diagnoses, and treatments that maintain the idea that mitochondrial disease may be the precipitating factor of autism in many children. The mitochondria, with its vast sequence of enzyme cascades and energy formation and supply through ATP, provides a substantial means by which researchers of autism may begin to pin down specifics in what causes the symptoms of a disease which affects a significant proportion of young children today. Much work has yet to be done in this relatively novel field, but no doubt, an overwhelming amount of potential will be founded in the inner-workings of the mitochondria in curing autism.

    Reference
    1. Frye, R.; Poling, J. Mitochondrial Disorders and Autism. Biomedical, 2009.
  2. Frickly

    Frickly Senior Member

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    Thanks for this. Mitochondria dysfuction is something that CFS and Autism have in common. This is why I beleive these two disorders will be found to have the same cause. Some are diagnosed with mitochondrial disease and have a huge organization that advocates for them. They have marathons to raise money, jars on grocery store check out lines to collect money, ect. I beleive we are all in the same boat and wish these orgs could start working together to advocate for all of us. Sigh....
  3. Rosemary

    Rosemary Senior Member

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    Hi Frickly,

    Yes it is interesting looking at the connection to mitochondrial disease this also reminds me of the Hannah Poling case
    Do you remember the Hannah Poling case ? Hannah Poling made history as her case was the FIRST to prove the AUTISM-VACCINE LINK, the Polings stated that vaccines aggravated her underlying mitohondrial disorder
    Hannah's father Jon Poling is a neurologist at John Hopkins University ......Frye, R.; Poling, J. Mitochondrial Disorders and Autism. Biomedical, 2009. -

    Further info here " In a move autism family advocates call unprecedented, federal health officials have concluded that childhood vaccines contributed to symptoms of the disorder in a 9-year-old Georgia girl.

    While government officials continue to maintain that vaccines don't cause autism, advocates say the recent settlement of the girl's injury case in a secretive federal vaccine court shows otherwise."
    * BTW Also interesting to know that Hannah Poling was awarded a multi-million pound settlement

    On Thursday March 6, 2008 at 11:30 a.m. at the U. S. Federal Courthouse in Atlanta, Georgia, Dr. Jon Poling, M.D., Ph. D. and his wife Terry, an attorney and nurse, will hold a press conference about the government’s recent concession that “vaccines” (not just thimerosal or the MMR shot), “significantly aggravated” their daughter’s underlying mitochondrial disorder and led to her diagnosis of autism and seizures. (The seizure part of the equation was conceded on February 22, 2008.)

    Hannah Poling was normally developing up until her 18 month vaccination and her “mitochondrial disorder” did not appear until after her vaccination. It is well-known that approximately 75% of mitochondrial disorders are caused by medications such as the drug AZT (for AIDS) or toxins. It will be the contention of Dr. Poling and his wife that the vaccines also caused her mitochondrial disorder.

    FIRST AUTISM-VACCINE LINK: HOW HANNAH MADE HISTORY
    http://www.ajc.com/metro/content/printedition/2008/03/06/autism0306b.html

    DAVID KIRBY: HANNAH POLING REALLY DID CHANGE EVERYTHING
    http://www.ageofautism.com/2008/06/hannah-poling-r.html
  4. Rosemary

    Rosemary Senior Member

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    When I first read about the Hannah Poling case I also wondered what Hannah Poling's underlying mitochondrial mutation was, and I was curious to know exactly what Hannah had inherited from her mother, as I think that this specific mitochondrial mutation is passed down from her mother, so I looked into it further and I remember reading that Hannah's genetic mutation was in the 16S ribosomal RNA gene ?

    Quote 'DiMauro says it's significant that the girl's genetic mutation was in the 16S ribosomal RNA gene, because these are very rare. Only four others are known. The gene plays a pivotal role in protein production, so any mutation that damages this function could have a huge impact on other mitochondrial genes and energy production by cells. "In the girl's case it would be important to prove protein synthesis is disrupted," he says '
  5. Rosemary

    Rosemary Senior Member

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    Dr Poling responds to Autism/Vaccine Nay Sayers
    http://www.wellsphere.com/autism-au...-responds-to-autism-vaccine-nay-sayers/175754

    DR. JON POLING TO DR. STEVEN NOVELLA ON AGE OF AUTISM

    By Dr. Jon Poling, father of Hannah Poling.



    OPEN LETTER TO DR. STEVEN NOVELLA

    IN RESPONSE TO "Has the Government Conceded Vaccines Cause Autism?"



    Dr. Novella,



    Thank you for generating interesting discussion regarding my little girl, Hannah Poling. I would like to give you additional information in order to generate further productive discussions on this matter amongst the neurology community. This information should assist you, Dr. DiMauro, and Dr. Trevethan, who have also commented publicly, to formulate better theories as to the significance of Hannahs mitochondrial dysfunction in relation to her autism.



    1. Mito Dysfunction or Mito Disease? Chicken or Egg?



    To begin with, I would like to point out that the spectrum of mitochondrial dysfunction is probably considered more broad and complex than the spectrum of neurobehavioral abnormalities seen with autism. Dysfunction of the mitochondria, specifically dysfunction of the oxidative phosphorylation pathway, most likely contributes, but may not be the cause of many diseasesincluding Parkinsons disease, Friedreichs Ataxia, Alzheimer disease, etc. Thus, it is probably incorrect to refer to mitochondrial dysfunctional and mitochondrial disease interchangeably. Indeed, the role of the dysfunctional mitochondrial are yet to be clarified in these diseases. Thus, I will refer to Hannahs metabolic condition as a mitochondrial dysfunction, not a mitochondrial disease.



    2. Mito Genetic Finding? Mito mtDNA red herring ?



    ADDITIONAL GENETIC TESTING NOT AVAILABLE IN THE J CHILD NEUROL CASE REPORT: Dr. Shoffner performed genetic testing on both Hannahs muscle and her mothers leukocytes subsequent to our case report. Hannah (muscle mtDNA) and her mother (leukocyte mtDNA) were both found to be HOMOPLASMIC for the mtDNA T2387C transition mutation.

    Our analysis of this genetic finding in the mtDNA was significantly different than those of other physicians that Ive seen in scientific blogs or commentary. I suspect it would have been fatal to both Hannah and her mother if this homoplasmic mutation was pathogenic since (as I am sure you are aware) the mutation is on the 16S ribosomal subunit which is highly conserved. Thus, this mutation probably represents a benign polymorphism rather than pathogenic mutation. It is unlikely, but possible, that the mutation is significant to Hannah, but in such a case, it must work in concert with other nuclear genes to cause her mitochondrial dysfunction. To our knowledge, this point mutation has not been reported in cases similar to Hannahs.



    3. Encephalitis? Metabolic Encephalopathy? Or Regressive Encephalopathy with Features of Autism Spectrum Disorder



    The other interesting term you used was encephalitis rather than encephalopathy. We are not sure that she had an -itis but we did clearly document a regressive encephalopathy based on not only our parental reporting, but also based on the pediatricians documents, affidavits from other family members, and the growth curve measurements (injury pattern). Early on in the regression we did note back arching (opisthotonus), fever, and disrupted sleep. Although fever occurred a lumbar puncture was not performed.



    An interesting developing story in autism research is the immune/inflammatory connection. In her senior resident thesis, Dr. Anne Comi, a former JHU colleague, along with Dr. Andy Zimmerman, reported, the increased prevalence of autoimmune disease in families of autistic offspring. Interesting, Hannah also has a maternal family history of autoimmune disease. Dr. Carlos Pardo, another one of my former chief residents, along with Andy and Dr. Vargas, published a beautiful study in the Archives of Neurology, demonstrating neuroinflammation on autopsy of brain samples and inflammation cytokine markers in the CSF of individuals with Autism. The interesting thing was that inflammation was demonstrated in autopsy specimens from adults as old as 44 years of age. The conclusion was that further research would be required to determine if inflammation was a primary disorder in autism or; alternatively, if inflammation and microglial activation was secondary to neurodegeneration. Dr. Sudhir Gupta at UC Irvine has a nice model of how the two pathways of neuroinflammation and mito dysfunction may not be mutually exclusive. This remains to be seen; however, study of mitochondrial dysfunction and neuroinflammation hold the promise of treatment development. The two avenues of research deserve funding at the highest levels....continued
  6. Frickly

    Frickly Senior Member

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    Hi Rosemary, I am well aware of the Hannah Poling case. Anyone can google it and find the information for themselves. It is amazing to me that the whole world can totally dismiss this. I think the governments campaign to cover up this and other cases has been very successful. Thanks for posting all of this information. I feel it is very important that it get out to the public that has been misinformed by the powers that be. I came to understand the connection between my illness and my son's autism while researching ways to help myself. If I had not gotten sick, I may never have understood this connection and my son would not be doing as well as he is today.

    Take care,
  7. Frickly

    Frickly Senior Member

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    In the video below Julie Gerberding MD MPH, while director of the Centers for Disease Control, conceded that vaccines triggered, "autism like symptoms" in Hannah Poling. Notice how they give themselves a way out by saying "autism like symptoms?"

    http://www.youtube.com/watch?v=Dh-nkD5LSIg

    Now Julie Gerberding has been named the president of Merck Vaccines. See link below.

    http://www.americanchronicle.com/articles/view/133617

    I think that is very interesting, to say the least.

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