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Molecular Psychiatry Medscape: Mitochondrial Dysfunction Linked to Autism

Mitochondria Have your children been tested for mitochondrial disorder? My girls have had tens of thousands of dollars worth of genetics tests ordered by pediatricians and neurologists. I have a photocopy of Mia's chromosomes at age 3.  It wasn't until years later when a friend from Tufts told me about mitochondrial testing that we found a specialist to pursue this avenue. And sure enough, for all the "perfect" genetics tests, the mitochondrial test show a different picture in all three of my kids.  KS

Megan Brooks Medscape HERE

January 31, 2011 — Mitochondrial dysfunction (MD) is more common in children with autism and autism spectrum disorder (ASD) than the general population, a comprehensive systematic review and meta-analysis of relevant research confirms.

Mitochondrial dysfunction "may play a significant role in contributing to the symptoms of autism and is generally underrecognized in these children," Daniel A. Rossignol, MD, of the International Child Development Resource Center, Melbourne, Florida, told Medscape Medical News.

"Testing for mitochondrial dysfunction is available, and early treatment might lead to better long-term developmental outcomes," said Dr. Rossignol, who coauthored the review with Richard E. Frye, MD, PhD, of the University of Texas in Houston.

The report was published online January 25 in Molecular Psychiatry.

Commenting on the study Cecilia Giulivi, PhD, professor of biochemistry and metabolic regulation, at the University of California, Davis, who was not involved in the analysis, said, "At this point, it looks like there is a higher incidence of mitochondrial disease in autism, much higher than we suspected."

She noted, however, that testing for MD "is not a trivial task [and] we need more research to come up with a consensus of diagnostic tests to run. In addition, maybe other metabolic syndromes should be looked into," Dr. Giulivi said.

The primary objectives of the analysis were to identify features of MD in the general population of children with ASD and compare characteristics of MD in children with ASD and concomitant significant and severe MD with that of ASD children without MD and non-ASD children with MD.

They included 68 relevant published articles in a qualitative synthesis, including 18 studies with a total of 112 children with ASD and MD.

Genetics Not the Culprit

The results showed the prevalence of MD in the general population of children with ASD is approximately 5% (95% confidence interval [CI], 3.2% – 6.9%), which is 500% higher than the general population prevalence of 0.01%. For a variety of reasons, "this 5% value is most likely an underestimation," Dr. Rossignol said.

It also appears that one-third or more of children with autism may have some type of dysfunction in their mitochondria. On the basis of laboratory testing, the prevalence of abnormal biomarker values of MD, including lactate, pyruvate, carnitine, and ubiquinone, was high in children with ASD, much higher than the prevalence of MD. Some of these markers correlated with the severity of ASD.

Most of the 112 children with ASD and MD (79%) had no an identifiable genetic abnormality that could account for the MD.

"The mitochondrial dysfunction and disease reported in autism are related to a genetic abnormality in only 1 out of 5 children; meaning that a majority of these children have something else contributing to this dysfunction, which might include multiple environmental factors, such as toxins, oxidative stress, inflammation, and decreased levels of antioxidants," said Dr. Rossignol.

"Clearly, mitochondrial function is a ripe area of research when investigating the biological mechanism(s) of action of environmental toxicant exposures and indigenous abnormalities associated with ASD," the study authors write.

Loss of Social Skills

Children with ASD and MD had some distinct characteristics compared with the general population of children with ASD. In 12 studies, "children with autism and mitochondrial problems were more likely to lose acquired skills compared to children with autism in general," said Dr. Rossignol. However, it was not clear whether MD contributed to or caused the reported regression.

In addition to a higher prevalence of developmental regression (52%), seizures (41%), motor delay (51%), and gastrointestinal abnormalities (74%), such as reflux and constipation, also appear to be significantly more common in children with ASD and MD relative to children with just ASD.

Currently, "testing for mitochondrial problems in children with autism is rarely done, and we feel that testing should be routine, especially in children with regression or loss of skills," said Dr. Rossignol. "This is important because early recognition of mitochondrial problems in autism might lead to better outcomes in children with autism."

Dr. Rossignol and Dr. Frye note in their report that published studies looking at treatment for ASD and MD are limited. However, some studies have suggested that treatment with mitochondrial cofactor supplementation, including antioxidants, carnitine, coenzyme Q10, and B vitamins, may improve mitochondrial function and behavior in some children with ASD.

"A therapeutic trial of mitochondrial cofactors and antioxidants may be reasonable in children with ASD/MD," the study authors conclude. Carnitine, they say, may be particularly helpful in children with ASD because carnitine deficiency has been implicated in ASD, and some studies have reported improvements with the use of carnitine in ASD.

The researchers emphasize, however, that systematic studies documenting the efficacy of this and other potential treatments for MD in children with ASD are generally lacking.

Need for Longitudinal Studies

A small study by Dr. Giulivi and colleagues showed that impaired mitochondrial function and mitochondrial DNA abnormalities, including overreplication and deletions, were more common in children with autism than in typically developing children (Giulivi et al. JAMA. 2010;304:2389-2396).

"According to our study and those of others, there is evidence for MD in typical autism and ASD," Dr. Giulivi said. "However, I don't think that we know the role of this MD, meaning if it is related to the etiology (cause) or consequence of another underlying altered pathway.

"In any case [cause or consequence], a decline in mitochondrial function [below the threshold for a given tissue] and especially in highly aerobic tissues, such as brain, will have an impact on cellular energy and, in addition, maybe on other mitochondria-dependent pathways, such as heme metabolism," Dr. Giulivi noted.

She also made the point that most studies to date have been cross-sectional and therefore, "unless it is a longitudinal one, we cannot assess the role of MD in ASD and autism."

Dr. Rossignol and Dr. Frye point out that many of the studies they reviewed had a number of limitations, including "small sample sizes, referral or publication biases, and variability in protocols for selecting children for MD workup, collecting mitochondrial biomarkers, and defining MD." Only 39% of the ASD/MD studies reviewed noted the criterion used for diagnosing MD.

They agree with Dr. Giulivi that further studies are needed to further define the role of MD in ASD.

This research was funded in part by the Autism Research Institute and the Jane Botsford Johnson Foundation. Dr. Rossignol has 2 children with ASD and is a practicing primary care physician who treats ASD children with standard and integrative treatments. Dr. Frye provides expert testimony for children with MDs who may have been injured from vaccines. Funds from such testimony are used to support research on the biological basis of neurodevelopmental disorders. Dr. Giulivi has disclosed no relevant financial relationships.

Mol Psychiatry. Published online January 25, 2011.

Medscape Medical News © 2011 WebMD, LLC

Lee Silsby logo 09 The treatment category is sponsored by Lee Silsby, the leader in quality compounded medications for autism.



Atherosclerotic cardiovascular disease, Autism Spectrum Disorders, and Mitochondrial Dysfunction may have a common underlying pathophysiology - instability of blood flow dynamics and microvascular ischemia. The hemodynamic, hemorheologic theory of atherogenesis has not be disproven.

“Vaccines Are One Big Experiment Causing Hundreds of Diseases in the Modern World” by Andrew Moulden, MD, PhD

“No oxygen to electrically active cells causes depolarization. In the heart, ischemia causes arrhythmia - a seizure to the heart. In the brain, ischemia causes seizures - arrhythmia to the brain. Seizures are a symptom of impaired blood flow and oxygenation just like vaccine induced autism-spectrum is a symptom of the same process.

You can have autism without seizures. You can have seizures without autism. You can have brain damages with or without autism or seizures. This is all ischemia - immediate and delayed, from instability of blood flow dynamics.”


“Most of the 112 children with ASD and MD (79%) had no an identifiable genetic abnormality that could account for the MD.”

This result is discordant with pharma’s genomics agenda for mankind. This result supports the view that ASD and MD are environmental in etiology. This result is not inconsistent with the view that mitochondrial dysfunction is a marker for microvascular ischemia.



A simple and common blood test measuring L-Carnitine is a good indicator too.

Teresa Conrick

dbcmom- Hi. Here is a medscape article that explains testing of mitochondria by blood.


Could the newest epidemic of autism be caused simply by giving a newborn a level of hepatitis b thus creating mitochondrial and peroxisomal disease?


what are the blood test that show if you could HAVE mito...before you havbe to do muscle biopsy?????



So glad I listened to Dr. Andrew Hall Cutler who believes mercury poisoning causes MD. After 2 years of chelation, no more MD! ASD nearly gone, too!

James Smith, DC, CCN, DACBN

Organic acids testing is currently the least invasive method of assessing mitochondrial dysfunction. I like the Cellular Energy Profile from We must remember that MD is not a dead-end diagnosis. Rather, it manifests itself from the influence of environmental factors, such as mercury. In my book, Autism: From Symptoms to Solutions the subject is discussed and a parent's symptoms assessment questionnaire is included.



What you wrote is consistent with what Dr. Bruce Cohen said here...that drugs can be toxic to the mitochondria. As far as I know the FDA does not require drug mitochondrial toxicity testing as amazing as that seems. Mitochondria as very sensitive to viruses and toxins.

Pharmacologic effects on mitochondrial function
Bruce H. Cohen

"Many of these drugs can cause clinical injury in otherwise healthy people, but there are also examples where particular gene mutations may predispose to increased drug toxicity. The spectrum of drug-induced mitochondrial dysfunction extends across many drug classes. It is hoped that preclinical pharmacogenetic and functional studies of mitochondrial toxicity, along with personalized genomic medicine, will improve both our understanding of mitochondrial drug toxicity and patient safety. © 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:189–199."

Full abstract and article:

Myths and Facts About Mitochondrial Diseases

65% Autistic Children Found To Have Mitochondrial Disorder


A fresh muscle biopsy absolutely can show mito dysfunction.


If anyone is interested in doing more reading on mito...all these articles below are from the same Developmental Disabilities Research Review, June 2010. This entire issue is dedicated to mitochondrial disease.

Autism and mitochondrial disease
Richard H. Haas1,2,*


Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears to be increased in incidence and prevalence. Similarly, mitochondrial disorders are increasingly recognized. Although overlap between these disorders is to be expected, accumulating clinical, genetic, and biochemical evidence suggests that mitochondrial dysfunction in ASD is more commonly seen than expected. Some patients with ASD phenotypes clearly have genetic-based primary mitochondrial disease. This review will examine the data linking autism and mitochondria.

The neurologic manifestations of mitochondrial disease (pages 120–128) Sumit Parikh

The role of mitochondrial dysfunction in psychiatric disease
Fernando Scaglia

Emerging therapeutic approaches to mitochondrial diseases
Tina Wenz1, Sion L. Williams1, Sandra R. Bacman1, Carlos T. Moraes1,

Carolyn M

I have a correction: I should have said: "Jaquelyn McCandless, MD" and noted that the quotation from her book was taken from Appendix D, which was written by Teresa Binstock. I apologize for the omissions.

Theodore Van Oosbree

The standard medical reply to the mitochondrial dysfunction question is that they are rare. Just how rare are they? The other question I have is the same one Hannah Poling's parents posed: did the vaccinations exacerbate a mitochondrial dysfunction or did they CAUSE the dysfunction? Mrs. Poling tartly observed that the vaccine court chose to believe the former rather than the latter. My impression is that the OA tests demonstrate that large numbers of autistic children have mitochondrial dysfunction and that it is not rare at all. I further suspect that large numbers of people have subclinical dysfunction that allows them to function normally unless they are subject to toxic insult (e.g., mercury, aluminum, etc.).

Carolyn M

From what I have read, the muscle biopsy is to diagnose mitochondrial disease, not mitochondrial dysfunction. The organic acids test can be used to assess mitochondrial dysfunction. Per Children With Starving Brains by Jaquelyn McCandless, p. 332: mitochondrial dysfunction "is not associated with any discernible mitochondrial abnormality upon muscle biopsy. It is, however, associated with laboratory evidence of lowered mitochondrial functioning." The associated footnote is to a paper by Drs. Rossignol and Bradstreet.

So, is muscle biopsy now found to be more reliable to assess mitochondrial dysfunction or is the OAT test still better for this purpose? I am genuinely asking the question.


I have found a place that does the most comprehensive, non-invasive(blood instead of muscle)testing. We are sending our sample in this week, hoping for more answers! Here is the link to their website:


I think mito screening should be step one. I think putting kids on Autistic Spectrum before ruling out underlying causes assumes way too much about our kids. It assumes that there autism is all behavioral vs. behavioral symptoms of an underlying medical condition.

Even though the testing is painful (though I've heard non invasive mito tests are available) I'd much rather have an accurate diagnosis for my son. Putting kids who may have an underlying mito or metabolic disorder on the autism spectrum is a disservice. I think the Autism label delays needed treatment and obscures the root cause.


To answer your question just by my own personal experience is this:

It takes a muscle biospy in two different places - on the thigh, and on the top of the shoulder.

For example; My husband had these two muscle biopsies done in the early 90's on his left side in Lousivile, Kentucky. They shipped it on ice down to Atlanta, GA at the Emory clinic to Dr. Shoffner. It was too late.

So my husband then went down to Emory clinic and had two more musucle biopises done on the right side.

They do leave scars about two inches long.

Dr. Shoffner has since moved - up to Cleveland Clinic (for a time) and worked with Dr. Cohen.

I refussed to have this done to my son or daughter. Because of that our neurologist in Michigan- where we had moved to the tri city area of the Bay City, Saginaw, and Midland tried to get a simple gas test done - breathing out while exercising and taking blood at the same time to see if there was a built up of puruyvic acid or lactic - I really don't remember. After going everywhere - no one seemed to know how to do this test. Our neurologist Whom I liked and respected (a rarity) was from Pakistan and when they could not do this test; he made the comment that he felt like he was in Congo Africa instead of the United States.

And while we are wondering which came first a chicken or the egg. Try to remember that regression starts at 6 months, or 18 months or 24 months - but for my husband it started at 34 years of age and continues. This is after he survived his childhood vaccines - including the DPT shot in the 50s and 60s. Yet in the late 80's the supposingly tetanus shot (AKA - DPT) brought all this own.

Pesticides or for that matter all poisons that we put on insects work on the mitochondria? I suppose now we will be told that pesticides only kill those insects that have a mitochondria disorder to begin with.

And one more thing, My son was tested not by muscle biospy but by blood test for three mitochondrial disorders, red ragged fibers, NERF and I forgot the other and all were negative. .


My son's doctor doctor recommended against mito testing because he said it was invasive,painful and expensive. He assumed my son had mito problems because mercury poisons mito and he has autism. My son's doctor also had a few choice comments about all this testing is just taking more money away from autism parents.


I just want to add there are mitocondrial experts like
Dr. Edwin Trevathan who runs the National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the CDC and who serves as a liason to the IACC who know all about mitochondrial mutations in connection with autism.

As head of the NBCDDD, experts like Trevathan should be taking the lead in advising parents and doctors to screen for mito DNA mutations instead of downplaying the connection saying that mito mutations are "rare". This is not true. This is not something to stay silent about.

Mito DNA testing could make all the difference in terms of helping our kids.

Dr. Edwin Trevathan, CDC, NCBDDD:



Maybe I'll try that approach. I get so frustrated living in Boston area which supposedly has some of the best hospitals in the country but it feels more like the Bermuda Triangle when it comes to getting medical help for autism or getting tests. Behavioral help great but not medical.

I had an unfortunate experience with Children Hospital Boston recently. I had contacted Children's to get my son an appointment with a neuro-immunologist there and was declined.

I wonder if my son had some other condition whether they would refuse to see him. That same day my son was declined, their genetics department called to see if I was interested in particpating in the Autism Genome project. (mind you they don't share the DNA results)...So, I'm thinking- let me get this straight, you won't treat my son but you want me to give you his DNA but you won't tell me the results... I declined.

I don't understand the attitude here. It's borders on sadistic when it comes to getting medical help to testing done for our kids.

I think all babies should be screened for mito DNA mutations especailly if 1 in 200 carry a mutation. If 1 in 200 have an underlying mutation then they should be screening kids prior to vaccinating. How many kids like Hannah Poling are out there?


Dr. Rossingil's comment about early testing and treatment is very true. i believe my son would be much worse off today if I had not done something when he was three. We knew something was wrong, but could not get anyone in the medical community to listen to me. Whenever I brought up nutrition and deficiencies at the pediatrician, i was screamed at.

I took the bull by the horns and found people to help us. We started early nutritional therapy and further refined it over the years. By the time we got a mito dysfunction diagnosis ( mito working at about 50% of normal, with overreplication), he was 9 yrs old. He is a patient of Dr. Frye, who has been marvelous.

I have metabolic testing that shows significant improvements over the 6 yrs in between in functioning, but still not normal. However, my son is in mainstream education with accomodations and is doing well, which is what it is all about. I can only imagine what his mito functioning was back then. As we have further refined the nutritional supps since the diagnosis, we have had huge improvements in health and behavior. Dr. Frye once told me when I asked if the nutritional supps over the years had helped, " You cannot start too early"....


Such careful wording. Which is it, chicken or the egg... did the damn vaccine cause the mito dysfunction or not.


Can somebody clarify what the current mito test(s) are? Is it a blood test or a tissue sample, or what?


Thank you Kim.. I am thinking about having a mito test done on my son. I'm curious what mitochondrial DNA will reveal. It think mitochondrial DNA mutations are a key piece of the autism puzzle.

After my son was dxed, we had a chromosomal DNA microarray tests done at Children's Hospital Boston per the recommendation of my sons neurologist. This screen for 60+ different genetic conditions. The results came back normal per the lab report. I asked his neurologist about a possible mito problem and he dismissed it. Maybe I'll give Tufts a call.

I did find this article about mito DNA mutation in the human population. According to this report, mito mutations are very common. It says mitochondrial DNA mutations are what pre-dispose us to disease.

Maybe this is proof that a vulnerable population exists.

Large Reservoir Of Mitochondrial DNA Mutations Identified In Humans- Science Daily

Here's another recent story on Mitochodnrial dysfunction being found in children with autism

Cell Energy Dysfunction Seen in Autism


Currently, "testing for mitochondrial problems in children with autism is rarely done, and we feel that testing should be routine, especially in children with regression or loss of skills," said Dr. Rossignol. "This is important because early recognition of mitochondrial problems in autism might lead to better outcomes in children with autism."

I suggest printing out a copy of this study, dropping it off to your child's pediatrician and schedule a follow-up in order to get him to figure out a way to have this testing done in a way that insurance will cover it.

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