Home > Science > Mitochondria and Autism Symposium

Mitochondria and Autism Symposium

For the second year in a row autism was featured at the United Mitochondrial Disease Foundation meeting. Following last year’s well-attended afternoon symposium, Robert Naviaux, M.D., Ph.D. (UCSD), in conjunction with Autism Speaks’ science team, successfully applied for an NIH conference grant to support a more extensive full-day meeting that included a family “Ask the Doc” panel discussion.

Why Mitochondria?

Mitochondria are the primary energy factories for all cells in the body.  When these factories reduce their output, critical cell functions begin to flicker or fade.  The energy is produced through a process called oxidative phosphorylation—an elaborate process that converts oxygen in body tissues to energy used for all cell functions. Although the metaphor of “energy factory” is the most common way to think of mitochondrial function, mitochondria are responsible for much more.  Mitochondria were once — long ago in the history of evolution — single-celled organisms like bacteria that functioned independently, responding to the environment and producing their own proteins encoded by a small circle of DNA.  Several billion years later, mitochondria are fully integrated into our cells, co-opting proteins encoded by the much larger nuclear genome of each cell to serve different functions. Proper mitochondrial function is tuned for each cell type since skin cells, heart cells, and brain cells all have different energy needs.  Mitochondria, like their bacterial predecessors, remain exquisitely sensitive to the local environment and as such function differently in developing versus mature cells, and also in response to differing temperatures, toxins and immune challenges.

Genetics and Epilepsy: finding common ground

The Saturday scientific session began with two primers, one on Autism Spectrum Disorders from Sarah Spence, M.D., Ph.D. (NIMH) and one on mitochondrial disorders from Salvatore DiMauro, M.D. (Columbia University). This background allowed the audience of parents, researchers and clinicians with different specialties to find some common ground for the later presentations and discussion.

One of the unique aspects of this meeting was the pairing of two talks on a topic, one taking the perspective of autism and the other mitochondrial disorders. Abha Gupta, M.D., Ph.D. (Yale) informed the group about our current understanding of autism genetics and focused specifically on what can be learned about the biology of autism by discovering rare mutations. Dr. Naviaux then wove the perspective of traditional mitochondrial genetics into a broader tapestry for the audience to consider. Over 1100 proteins are active in the mitochondria, and the DNA that codes for these proteins is scattered throughout the mitochondrial genome and all the chromosomes in the nuclear genome. This scatter and spread makes mitochondrial function an easy target for random mutations. Also, mutations in one gene can have complex effects on the expression of other genes.

Another area of Dr. Naviaux’s research has focused on a mitochondrial disease called Alper’s syndrome, in which the patient develops typically until a relatively mild viral infection stresses the system and uncovers the mitochondrial deficit, resulting in the onset of severe symptoms. Research into genetic vulnerabilities revealed by environmental stressors is relevant to our understanding in autism of the interaction of genes and the environment. In his presentation, Carlos Pardo, M.D., (Johns Hopkins University) considered the interaction with the immune system by focusing on how components of the immune system serve key roles in development. Dr. Pardo surprised the autism research world in 2005 when he showed clear marks of neuroinflammation—signs of an activated immune system in the brain—using postmortem tissue from individuals with autism. This intersection of immunology and the brain has been a major focus of his lab. At the symposium, Dr. Pardo showed how a specific class of receptors that are important for marshaling resources to fight infection and healthy brain development also affect mitochondrial function. The converse was also noted– the metabolic breakdown products from dysfunctional mitochondria can adversely affect this unique receptor system.

A second set of presentations focused on epilepsy.  Russell Saneto, D.O., Ph.D. (University of Washington) offered his clinical perspective from treating many cases of epilepsy in mitochondrial disorders.  Depending on the underlying cause of epilepsy in mitochondrial disease, different types of treatment tend to be more effective.  This theme was echoed in a presentation from autism expert Roberto Tuchman, M.D. (University of Miami) who talked about “the epilepsies” as a related group of disorders, but noting that optimal treatment comes from identifying underlying biological conditions when possible. A particular type of epilepsy called West syndrome was described by both speakers.  This severe form of epilepsy is thought to involve a dysfunction in a component of neural circuits known as “fast-spiking interneurons” that inhibit the activity of neighboring cells.  These fast-spiking cells are particularly expensive from an energetic perspective.  Therefore, any mitochondrial dysfunction would especially affect these energy-demanding cells.

Carolyn Schanen, M.D., Ph.D.  (University of Delaware) presented data on individuals with autism spectrum disorder that have a duplication in the long arm of chromosome 15. These individuals, who frequently present with epilepsy, exhibit an interesting pattern of gene expression and show evidence of mitochondria dysfunction in postmortem brain tissue. The portrait of this subgroup of autism punctuated the need for pursuing research studies of mitochondrial function in autism and simultaneously highlighting the immediate need for better diagnostic and treatment options.

Diagnosing and treating mitochondrial autism

Richard Haas, M.D. (UCSD) presented the state-of-the-art for diagnosing mitochondrial disorders. The diagnosis of mitochondrial dysfunction is dependent on the results of a series of tests, some of which, like a muscle biopsy or lumbar puncture, are relatively invasive. This presents a situation in which patients and parents need to elect how much testing to do with advice from an informed mitochondrial expert. Although there is no definitive test for mitochondrial disorders, there are agreed-upon checklists based on test results that indicate “likely” or “probably” mitochondrial dysfunction. Dr. Haas pointed to a set of “red flags” that should lead primary care doctors, including pediatricians, to consider a referral to evaluate mitochondrial function.

Treatments for mitochondrial disorders also share a commonality with autism—many complementary and alternative therapies exist with unfortunately little evidence as-of-yet to support their use. Bruce Cohen, D.O., M.D. (Cleveland Clinic) evaluated what we know about vitamin and supplement therapy. Few overall conclusions could be drawn, given the heterogeneity of presentation of mitochondrial dysfunction, but it is clear that more randomized clinical trials are needed especially in subgroups of patients. Until we have more data, exercise is recommended as therapy for all those living with mitochondrial disorders, and certain supplements to support good mitochondrial function and minimize reactive oxygen species may be used under the supervision of a physician to monitor benefit.

Ask the Doc

A group of parents and patients were fortunate to have five leading pediatric neurologists addressing their questions and concerns about mitochondrial disorders and autism. The panelist included Drs. Richard Haas, Sarah Spence, Bruce Cohen, Pauline Filipek, M.D. (University of Texas at Houston) and Roberto Tuchman.

Parents began by asking questions about the prevalence estimates for both autism and mitochondrial disorders, for which we have little population data in the US.  However, the panelists explained that data from a large Portuguese study and several smaller studies would suggest that approximately 5-10% of cases of autism may also have a likely mitochondrial dysfunction.

A lot of discussion centered around the utility of genetic testing, with the panel carefully making the distinction between the need to pursue genetic studies for research but taking caution to not put too much weight on genetic studies for individual diagnostics.  A comparative genomic hybridization (CGH) array study is definitely recommended as a good place to start for suspected mitochondrial disorders.

Questions surrounding treatment were another hot topic.  As noted previously, we would like to get to evidence-based medicine standards for the treatment of autism spectrum and mitochondrial disorders but that is difficult with disorders that present with such unusual heterogeneity.  Among the panelists, there was a general consensus that therapies such as chelation and hyperbaric oxygen were not recommended for this population due to a lack of evidence for positive effects paired with substantial evidence for the potential to harm.  In particular with hyperbaric oxygen therapy, the panelists were concerned about the potential for reactive oxygen species that can emerge from exposing a weakened mitochondrial system to more of what it can’t process well (that is, turning oxygen into energy).  For more innocuous potential therapeutic strategies (such as dietary interventions including some supplements), the panelists suggest that patients (or their parents) work with their physicians to conduct their own trials.  There was great hope for pharmacogenomics in that therapies of the future can be targeted to support a known deficit.

The meeting closed on a note of enthusiasm both for this topic and the pervasive sense of collaboration at this meeting.  Autism Speaks looks forward to more collaboration between our communities for continued progress in understanding and awareness of mitochondrial disorders in autism.


  1. Katie Wright
    July 8, 2010 at 11:27 am

    I am very glad to see this conference take place but it should have been more substantive and current.

    “chelation and HBOT were not recommended for this population.” I feel like saying, “do you guys get out into the autism community much?” No one treats mito disorder w/ chelation. This strange obsession researchers have w/ chelation is not something shared w/ the community of families. Probably 1- 5% of ASD kids are chelated. So please let’s move on to how we CAN help these children.

    HBOT isn’t any more dangerous than a drug trial and it is over and done with in half an hour. It did not help my son but I know plenty of children who have regained skills after HBOT therapy. Interested parents should find a good local DAN! doctor and talk about it. Your pediatrician will not know anything. If there are insufficient trials on HBOT, let’s study it! I know of many such studies that have been submitted to AS and rejected. You cannot have it both ways- complain about the lack of research all the while rejecting the opportunity to conduct such research.

    Stop focusing on what you think doesn’t work and instead focus on how you can help these children.

    Where is the panel’s ideas for the here and now? We cannot afford to wait a decade in hope of pharma to make drugs- you need to focus on 2 tracks – helping now, primarily. This panel should have come prepared to speak at length about interventions commonly used and new interventions being studied now. Where was Dr. Andrew Zimmerman? He wrote a book on the subject and was one of the first to discover the huge 25% overlap b/n mito disorders and ASD.

    Where were Jon and Terri Polings??? He is a neurologist and the father of an affected daughter. Terri is a RN and the mother of the affected daughter. I have seen both parents speak at length re mito disorders in the media. No one knows more about the latest interventions than these 2 parents- and as medical professionals they certainly belonged on this panel. Why weren’t they invited?

    Giving the standard advice to “talk to your physician” isn’t helpful- and not what people travel to conferences to learn. Most physicians will have NO insight how to help these children- that is why parents go to conferences. Instead the kids will undergo many expensive and invasive tests yet still almost no treatment is available other than folate supplements. Physicians also fail to recognize that most ASD kids do not have the full blown disease, but a mito disorder- as a result they often tell parents “everything is normal” when it isn’t.

    Talking about chromosomes isn’t helpful either. Where were the discussions on substantive environmental triggers? THAT is helpful. We needed to figure out, sooner, rather than later what is triggering these latent mito conditions into a debilitating disorder.

    This is why you have a responsibility to be on top of all the latest here and now intervention research. “Great hopes for the future” doesn’t help our kids.

    • April 21, 2011 at 4:42 pm

      I have recently read several articles referring to deficient mitochondrial function in Autistic children. I believe that the daily use of the BIOMAT could improve this function without any side effects at all. It is safe enough to be slept on every night. The mat emits far infrared light and negative ions. Far infrared light will stimulate the mitochondria and produce ATP, the cells energy source, while detoxing cells at the same time. Please refer to my website http://www.yourbiomat.com info@yourbiomat.com

  2. MC
    July 8, 2010 at 7:38 pm

    “Among the panelists, there was a general consensus that therapies such as chelation and hyperbaric oxygen were not recommended for this population due to a lack of evidence for positive effects paired with substantial evidence for the potential to harm”

    If there is substantial evidence for the potential for harm, especially for these very fragile children, it is well worth warning parents. It is beyond “well worth”, it is imperative that these warnings be made.

    Unfortunately, David Kirby put the misinformation into the public eye that mitochondrial dysfunction and mercury were connected. He did a lot of harm when he took on the mitochondria/autism story. A lot of harm. His ignorance could be costing children their health.

    Katie Wright claims no one treats mitochondrial dysfunctions with chelation. She later asks why the Poling family wasn’t at this conference. Perhaps Katie should ask the Polings why they chelated their daughter?

    • Maria
      July 10, 2010 at 10:25 pm

      Thank you Katie for your post. I couldn’t have said it better myself. What are we avoiding here? Why is the group limiting themselves and out information? We need answers and there are answers out there is we just look!

  3. Sarah Evans
    July 9, 2010 at 12:11 am

    I want to know why if immunity can affect mitochondria will no one in the medical community acknowledge that shots can cause the onset of an asd? I have 2 sons with autism who both had immediate high fevers after having shots and lost all language, eye contact, etc… this was not a gradual reaction it was immediate (same day) and they both had the shots at diffrent ages and in diffrent years my younger son wasnt even born yet when our oldest went into his own world I feel it was the flu shot because those were the only times each of them had one but they had other shots alongside them. I have long believed it is due to the bodys reaction to the shot changing a childs immunity. I wish they ctould prove it because my second son

    • Diane Holly
      July 10, 2010 at 1:16 am

      I agree with you Sarah, but the sad fact is vaccines are making too much money for the drug companies. And now that they are mandated, it’s money they can rely on. The MD who wrote the original paper questionning a link between autism and vaccines has been stripped of his license and booted out of the medical community. They are not looking for the truth. They want a magic bullet!!! They want to find something they can manufacture and sell. We live in a sick world. The real heroes are those who are using holistic means to heal these kids and some of them at a risk to their own reputations. The medical community does not want to hear the vaccines are the cause!!!

    • Noreen
      October 20, 2010 at 11:31 pm

      Sarah, I saw a Sensory “freak out” in my healthy baby after his 6 month shots…and I mean “freak out” where I noted it and told my husband, something has happenned, something is wrong. Suddenly lights were freaking him out and his surroundings. Those shots DPT, Hib, Hep B (how the hell many they give at that 6 month) then the diarreaha came and none stop. I believe the Medical Board felt it necessary for my son to have an Oral Vaccine (we all know how well they work) against diarreaha. Well guess what, DIARREAHA VISITED DAILY. Then the flu shot (which we called in our reaction) Inflammation like crazy, loss of some eye control, one leg turned in…it just kept getting uglier and uglier. YES, I am happy MY child didn’t die (but you know all the SIDS cases, 1/2 are BS and vaccine reactions). WAKE UP PEOPLE… MORE VACCINES and our kids are MORE CHRONICALLY ILL. Do you think God meant it to be that way??? Shot up your baby with 33 shots our did Money making greedy intimidating Assholes do it??! It’s your call! Is Autism UP or down? NJ #1 in SHOTS PROUDLY and #1 in Autism – the 2 go hand in hand!

  4. Teri Richards
    July 9, 2010 at 12:36 am

    Research is needed for autism that recognizes subgroups – divisions based on symptom presentation as well as other medical conditions (spinal conditions, skin conditions, metabolic, neurological, mitochondrial, muscular, immune, etc.)

    And these conditions need to be identified as primary or secondary as well as genetic, environmental, etc.

    For example, fatty acid oxidation disorders may a secondary or primary conditions…

    Dedicate funding and advocate for these research priorities SOON please!

    It is well recognized by Mito experts that autism symptoms have different etiologies. It is a message that has been obscured by rancid press focused on negative spins for publicity’s sake.

    I hope that the Symposium will ignite a fervor in finding answers to determine helpful treatments for different etiologies. I also hope the Polings can become included in future Mito panels and decisions.

    • Noreen
      October 20, 2010 at 11:36 pm

      Teri, Oh I forgot to mention both of my children experienced eczema after their shots and close to the shot location. I wonder if anyone is doing an ECZEMA study because I believe that these shots are causing Inflammation everywhere in the body, including the Brain. LONG TERM STUDIES PLEASE!!!! We already KNOW the numbers are UP, WAY UP!

  5. Gale
    July 9, 2010 at 10:10 am

    Thank you for providing such a terrific review of the symposium. I attended and took notes but without a strong science background got lost in the details on more than one occasion. Your review was very educational and thorough. I was very impressed with the young professionals and their elder mentor colleagues who have dedicated themselves to this area of research and are shedding new light on mitochondrial function and what little is known of its dysfunction. They gave testimony on how many of their clients with autism, when tested, showed to have the genetic markers they have identified so far and are studying. They felt that to their educated eyes, they could tell when a child was suffering with the disorder and not just typical autism. There are of course other disabilities that now seem to be linked to these markers. It was interesting and important research with the potential to shed more dynamic light on the diagnosis of autism for some individuals. I think that everyone there would have liked information on the Poling’s specific situation although I did not expect them to be there. This Mito research will shed light on subgroups as I believe there was talk of a possibly developing a phenotype in this regard. It is true that “Most physicians will have NO insight how to help these children” and why should they at this point? They do need to be educated and armed with the resource knowledge. I learned more about Mitochondrila Disorder within 20 minutes on the phone with the Mito Org. hotline than I ever would have found out from an PCP and as rare as it is, I would not expect to. I think developing an example phenotype in the interim to include for example “hypotonia” in the description which was a major observable symptom in all the case studies they covered. Identifiation is a problem and necessary to get those affected the very specialized supplements and care that they need, and that is why the symposium was so important.

  6. Katie Wright
    July 9, 2010 at 11:32 am

    Sarah, my son had the exact same experience as your son. Our childrens’ trajectory into autism must be studied.

    Terri is right, this problem must be a higher priority for research investment. My child was not born with autism, he developed it over the course of just a few months. Clearly cases like his could be prevented if we can identify the environmental trigger and the genetic vulnerabilities of this subgroup.

    Evidence thusfar has shown that mito kids often have a family history of autoimmune diseases. As a result these children have weaker than average immune defenses. My son’s febrile seizures were triggered by the 7 vaccines he received in one day. If we can do something as simple as advising parents w/ this family history to separate vaccines why aren’t we studying this? Fear of this subject isn’t helpful. As things stand today the progress towards causation and cure is grossly insufficient especially when compared to the exponetial increase in cases.

    Instead of sitting back and hoping pharma comes to the rescue in 10 yrs- we need to aggressively invest in research into environmental triggers now.

    • Noreen
      October 20, 2010 at 11:59 pm

      Katie – Very well spoken and true. What about our kids we regressed after their shots and are suffering seizures because all these vaccines interferred with his brain and body development??? First we were Refrigerator Moms, now were ALL crazy :) yet, 25-40% of us experienced the same thing? I am very thankful to the POLING family but now we need to ACT and we need to SPEAK OUT against PHARMA and all Their STUPID PRO DRUG commercials. They are gross and disgust me. These are little innocent babies who did nothing but “be born”.

  7. Sheri Dengler
    July 9, 2010 at 12:52 pm

    How can I find out more about testing? We did genetic testing over 11 years ago, I am epileptic and have always wondered about any genetic factors or correlation for my child and health history. Please let me know who or where to find out more.

  8. MC
    July 9, 2010 at 1:36 pm

    “If we can do something as simple as advising parents w/ this family history to separate vaccines why aren’t we studying this?”

    Who says no one is looking into this? It isn’t simple. Far from it. What if parents of children with possible metabolic issues were delaying vaccines in California this year and left their children vulnerable to the whooping cough epidemic that is going on? One well known environmental trigger for permanent injury to people with metabolic disorders is infectious disease. From the above post:

    “Another area of Dr. Naviaux’s research has focused on a mitochondrial disease called Alper’s syndrome, in which the patient develops typically until a relatively mild viral infection stresses the system and uncovers the mitochondrial deficit, resulting in the onset of severe symptoms.”

    This is very serious and very specialized medicine. There has already been a lot of misinformation spread. The Polings, for all their background, got pulled into the mistaken belief that chelation was an appropriate therapy

    Now is the time to let experts teach us, the parents.

  9. Deborah West
    July 9, 2010 at 1:42 pm

    Because of the mitrochondria and autism joined condition/diagnosis would this be linked to the genetic jewish disease–dysautonomia?

  10. Deborah West
    July 9, 2010 at 1:44 pm

    Does the intake of salt in one’s diet help with how a person feels when they have the mitrochondria and autism condition/diagnosis?

  11. Nancy
    July 9, 2010 at 1:45 pm

    At the request of a friend I took my son to see Dr. Luis Romero. My son is 4 1/2 years old and has autism. He too was lost in his world, did not speak or socialize. Per Dr. Romero I started my son on a pure bio-ready Humic/Fulvic Acid regimen along with a blend of powerful polysaccharide peptides. The humic/fulvic acid will detox his little body of all heavy metals and the polysaccharide peptides will power up the mitochondria. I was not convinced at first but I was desperate like a lot of us out there. After almost a month and a half the change in my boy was night and day. He stopped me in the kitchen and said “mom, want lunch”. It has been three months and my son is making eye contact. He is trying to speak and is working with a speech therapist. He ask to play with me now. His doctors are stuneed at his improvement. No more constipation. He sleeps through the night and I could go on and on. This products are only available through a paid membership but it is worth it. I will not be on her making false claims. My son is my testimonial. If anyone would like to speak to Dr. Romero I can put you in touch with him. I belive my son is on the road to beating autism. Please give these products a try. I want doctors to investigate them and start spreading the word because they work!

    • Diane Holly
      July 10, 2010 at 1:02 am

      I am interested in finding more out about Dr. Luis Romero’s treatments as well as HBOT. My son also once he received the MMR became a different child, no longer engaged in normal activities but into his own world. He had some seizures over time and did not know how to socialize. With the help of Dr. Lasneski in Hadley , Ma and occupational therapy and some holistic therapies, my son is doing well. I also am an RN and believe Big Pharma wants a piece of this. But the answers are in the holistic world. We all know it. If anyone can direct me to more holistic answers please email me. I am happy to share mine as well.

      • Melissa Oronia
        February 1, 2011 at 6:30 pm

        Hi Diane,
        I wanted to find out about the holistic medicine that you are giving your child. I too have a child with autism. Thank you

    • Lori
      July 12, 2010 at 4:03 am

      Who is Dr. Luis Romero and what is his area of specialization. What hospital is he associated with?

  12. Deborah West
    July 9, 2010 at 1:47 pm

    I had heard there are many kinds of autism (Melmed Center–Conferences). How many are there? Also could dysautonomia show to have the same observations when looking at the emotional dysfunction?

  13. Deborah West
    July 9, 2010 at 1:50 pm

    Fehrenbach is my maiden name and my father was German but for sure we have Jewish blood due to a disease he found out he had from Mayo’s Clinic. Could you tell me if certain blood types of racial decent tie to certain types of autism?

  14. Maria
    July 9, 2010 at 3:47 pm

    @Sarah Evans. If you haven’t already, you should the published paper by neurosurgeon Dr. Russell Blaylock explaining the vaccination/autism/immune system link.


    Click on “Published Papers”

    He explains what you are saying clearly.

  15. ruth rosen
    July 9, 2010 at 5:02 pm

    We need more research and a better way to communicate with the families who need help getting their children timely help. Keep writing and let’s talk as much as possible.

    My grandson has been denied the ABA therapy, which has been
    very helpful,because our school district is short of money even though they know he needs it and has shown great progress. I could write paragraphs on the problems that we have encountered in getting support from his school The only solution seems to be a law suit but that is very expensive when the business is falling apart and just keeping our roof over their head and food on the table is very difficult. The federal mandates are not funded and the state is broke.

    If anyone has any ideas please feel free to write.

    • Lori
      July 12, 2010 at 4:07 am

      I wonder if you went to a local University that teaches ABA to Teachers, if somehow you could have your grandson work with graduating students doing their clinicals. At least he is exposed to functional stimulation and you would have exposure to a clinical team without the expense.

  16. Gerri RN
    July 9, 2010 at 10:12 pm

    I would love to see researchers start searching for answers for autism, among other neurological conditions, by listening to what parents are saying about their children. My kids both were born normal. One regressed at 1 yr and the other regressed in preschool. One has ASD and the other ADD w/ many other health issues. I had to push and see many docs before it was finally discovered that both have underlying mito (oxydative phosphorylation disorder). Luckily, I am an RN and had a better idea of how to manage my way through the medical field to get my kid’s primary diagnosis (mito). A typical parent may not. We need guidance.
    I also want to add that HBOT and many other integrative/biomedical interventions are doing wonders for many of our kids. I know because my kids are among those kids. To dispute that would be injustice. I have repeated tests that were abnormal before HBOT. Those same tests are normal now. My children are losing medical diagnosis bc of the biomedical interventions and HBOT, not to mention both would have indefinitely been tube feeders without HBOT/Biomedical interventions. There is no cure for mito. Docs told me my kids would continue to get sick and eventually die. I realize too that some docs say HBOT is too risky for mito patients bc of oxidative stress. That’s why you start HBOT at room air then slowly adding O2 over a period of 40 treatments. So, please please start studying what parents are saying about there kids! And, realize it is not a one size fits all. What may help one person may not help another! There are many different subsets of autism/neurological disorders that need to be researched so proper prevention, guidelines, and interventions can be made. If not, the number of neurological disorders/mito will to continue to rise!

  17. martha vargas
    July 9, 2010 at 10:35 pm

    My son had 9 diferent vaccines the same day, and everything started right away. Why the scientist are looking on genetic aspects if every parent know that shots are the reason for autism. Only studies made from parents of special kids are the ones that had have some good results, because they are researching with their heart. For me natural and holistic treatments are the only ways that help our kids, I have notice how my son improves with homeopathic treatment, and is an easy, complete, and gentle way of healing.

  18. July 9, 2010 at 10:48 pm

    My question is: if they are saying some forms of PDD originate in the Mitochondria, is the PDD “inherited” from the maternal lineage? My husband is mildly Aspergian and one of our daughter’s is “more” Aspergian and yet another has ADHD/Inattentive. By my logic (which is probably flawed), wouldn’t I be a “carrier” for the Mitochondrial DNA for PDD?

  19. July 9, 2010 at 11:05 pm

    My girls with ADHD and Aspergers are from a set of triplets born at 31/3. All progressed “normally” with my Aspie regressing at 2 and 1/2 years. The ADHD was just diagnosed at 7 year in my other daughter. I have 4 girls (10, 8, 8, and 8).

    I just was questioning since Mito DNA comes from mom, and in our case, dad is the Aspie, what is the connection? Or I am ignorant of some other facts?

    • Noreen
      October 20, 2010 at 11:44 pm

      Personally, I believe Autism is related to ADD/ADHD. DO you have any signs of this? Girls tend to be “milder” so it sounds like you lucked out in having all girls, especially if your husband is on the Spectrum. This is just theory but something worth thinking about. Is there any Autism (bipolar or schiz) in your side/Sister’s kids or brother’s kids or questionable cousins? This could UP the chances of something in your genes. Seriously, I hope your not playing a “blaming game or who caused this” very damaging. Consider yourself very lucky to have HF girls and look deeper into the medical history of our family (emotional, social, psychological). It appears also that we tend to “gravitate” towards each other ;) so this could also up the chances (you have ADD/ your husband an Aspie). I do hope though that more test are given and done before PHARMA gets their dirty, nasty hands on our infants. ONLY real threats and no bottom line. NO more conflicts of Interest – in breeds DISASTER!

  20. Katie Wright
    July 10, 2010 at 8:59 am

    2008, fmr CDC president Julie Gerberding said: if a child was immunized and got a fever and had other complications, it can certainly set off damage.” Too put it mildly. If your child has a mild, underlying mito disorder, and there is no way of knowing this prior to vaccinating, an adverse vaccine reaction can set off stoke like symptoms and a severe regression. It is vitally important this population is studied because this is probably the most preventable form or autism and because these children historically make the least progress.

    Researchers are frightened of this area of study and prefer to focus on less controversial aspects of mito disorders and autism. Change will only come because you ask for it- again and again and again.

  21. Jodi Jarvis
    July 11, 2010 at 12:52 am

    I was pleasantly surprised when I saw this subject in this editon of Autism Speaks Blog. I found out that I have a mitochondrial mutation, as do my daugher, and son, who was diagnosed at age 7 with PDD-NOS. We all have various medical conditions that, when put together, you can certainly see the mitochodrial mutation at work! We all are reasonably healthy though my son has hypertrohpic cardiomyopathy and will require the placement of a difibulator. (We’re blessed–the doctors found this so we can actually do something about it!)

    If anyone is doing research or work on the G15257a mutation, I’d be happy to share information that might help your research.

    • lchukoskie
      July 12, 2010 at 11:50 am

      Hi Jodi,

      I’m part of the science team at Autism Speaks. I shared your comment with Dr. Naviaux and he had a suggestion if you want to participate in research. A new registry is in the works and you can connect with them to be listed for possible enrollment in future studies that would be appropriate for your family.


      Thanks for your interest and willingness to share. This is an excellent discussion and it is clear that autism and mitochondria is an area of great interest to the community.

      Best wishes!

  22. Autistic
    July 15, 2010 at 7:15 pm

    My mitochondria are just fine, thank you. Autism runs in my family. It is also not a disease, but a difference. But, it’s a hard to raise money for a difference, isn’t it?

  23. Cristina V.Martinho
    July 21, 2010 at 12:49 am

    I would like to know more about Dr. Luis Romero. Can anyone tell which state he is in? What is his specialty? Thank you

  24. Nancy
    July 26, 2010 at 1:15 pm

    Hi Cristina. I had an opportunity to meet Dr. Romero at a seminar in California. It truly was life changing. Dr. Luis Romero is a Venezuelan Internist, Cardiologist, and Clinical Pharmacologist Post-Graduate from Harvard University and University of Massachusetts. Professor of the Fisher Institute for Medical Research. President of Humanitas International Foundation National and International lecturer on Health Education, Health Promotion and Holistic approach to Healing. If you would like more in information on the products or want to go to one of his seminars email me at nmoreno24@msn.com. Like I said in my testimonial the products are only available throuhg a paid membership but I know you will not regret it.

  25. July 9, 2011 at 2:03 pm

    It definitely agree with the previous despatch

  1. September 13, 2010 at 5:20 pm

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