Home > Got Questions? > What is mitochondrial disease? How often does it occur in individuals with ASD? Are their effective treatments?

What is mitochondrial disease? How often does it occur in individuals with ASD? Are their effective treatments?

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

Cell with LabelsMitochondrial disease is caused by an error in the functioning of mitochondria, which are essential energy-producing compartments of nearly every cell in the body. Certain mutations can cause the mitochondria to function inefficiently. These mutations can be within the mitochondria itself, with its own small circle of DNA, or within the nucleus where the rest of the cell’s DNA resides. Over 1500 genes carry some part of the recipe for the optimal functioning of mitochondria. This means that there are many ways for mitochondria to function imperfectly but there are also complex means available to mask a deficit by altering some of the other protein interactions.

Mitochondria are responsible for the process of oxidative phosphorylation that turns nutrients into energy through a series of stages involving complexes of enzymes. A break at any particular stage results in an atypical balance of metabolites in affected body tissues and fluids.

Most people consider mitochondrial disease to be one of a growing number of disorders caused by a defined set of mutations and presenting with a set of characteristics that typically involve three or more organ systems. However, mitochondrial disorders are often diagnosed when no mutation is found despite observations of metabolic signatures of mitochondrial dysfunction. The symptoms may also be more mild.

We do not have a firm estimate of mitochondrial disease in ASD. However, if we use the broader definition of mitochondrial disorder then according to a population-based study in Portugal, there may be as many as 4% of the ASD population affected. Autism Speaks’ research is addressing this and related questions through a grant to Cecilia Giulivi, Ph.D. at UC Davis and also through a collaborative research project at UC Irvine and UC San Diego.

There is currently no cure for mitochondrial disease or disorder. There are, however, treatments and practices that can improve the quality of life and slow the progression of the disease. The most effective treatments are for specific symptoms that tend to accompany mitochondrial dysfunction such as seizures treated with anti-convulsants. Regular exercise, a healthy diet, stress and extreme temperature avoidance are among the common recommendations. Some dietary and supplement regimes have anecdotal support but there is a need for empirical studies to test the efficacy of these therapies.

For more information, please visit the United Mitochondrial Disease Foundation (UMDF) website. Also, read our report on a joint Autism Speaks’ supported symposium at the annual UMDF meeting.

  1. Katie Wright
    November 9, 2010 at 1:24 pm

    That 4% number only accounts for strictly defined Mito disease. In his article in the “Journal of Child Neurology” Dr. Zimmerman found that upwards of 25% of ASD kids have mito disorder- a subtle but important difference.

    That is a frightening number considering 75% of Mito disorders are idiopathic in nature. There is no way to know you have a mito disorder until you develop a problem. Multiple vaccines can over stimulate the immune system of children in this subgroup, causing chronic immune dysfunction, GI problems and eventually brain damage. The gut is the locus of our immune system and it is connected to the brain.

    There is a reason why so many ASD/ mito kids regressed into autism. Multiple vaccines triggered fevers, immune dysfunction and regression- at least in the case of my child.

  2. Kat Sharp
    November 10, 2010 at 5:55 am

    I am the mother of an autistic daughter who just turned 7 – doing fairly well, but still non-verbal. I will take all the information you’re willing to share – thank you so much.

  3. Sarah
    November 10, 2010 at 8:43 am

    I can’t agree with you more Katie. It depends on where you go – this is VERY political in the mito world – forget our world. What are the implications to big pharma?

    So, my child with lactic acidosis, explosive head overgrowth, autoimmune issues, bloating, GI issues, cognitive COLLAPSE when exhausted – doesn’t have some sort of mito-dysfunction. You must be kidding me. THEY (the non-Zimmermans) must be nuts (or evil).

  4. Katie Wright
    November 10, 2010 at 2:22 pm

    I know Sarah. 99% of doctors are looking for the strictest definition only- they have no idea of what is going in in kids like our because they were never taught about the “Hannah Poling” like
    side effects of multiple vaccines.

    Sadly the mito organizations are afraid of this problem. They seem want to stay on the periphery and not delve into the tough questions. I would not look to them for much help- afraid of vaccine issue. Maybe I am wrong but that is what a few parents told me about the recent conference.

    My child is exactly like your child and they are 2 of tens of thousands- they probably compromise the biggest group of mito impaired Americans! Zimmerman and Polings article explains it all better thanI can.

    • Laura
      November 12, 2010 at 8:41 am

      I agree. My son is 10 with autsim and diagnosed with a Mito disorder last year, when he was too exhausted to walk for 6 months! His blood work was incredibly abnormal, and we went to 3 medical centers who just shrugged and said he’s autistic what do you expect? Fortunately, we use a Dan doctor who reached out across the country to get us answeres. Also, my son’s school is familiar with mito kids and really supportive. The medical community really needs to look into this and figure out what’s causing the links.

  5. Leora Leon
    November 12, 2010 at 2:11 pm

    Katie, you are right. Autism = Brain damage. As each child is different, the characteristics are the similar. My son 15 now had infusions of immunoglobulin at the age of four, by the head of immunology at UCI. Before there were extreme behaviors, he seemed like he was in pain, I found that Tylenol stopped the tantrum. I look back and see videos of my son screaming and putting a bottle of water on his head.
    What was happening was my sons brain was inflamed (immunizations w/ mercury). After the first infusion of immunoglobulin, he was in the tub and looked up at me; it was as if the light came on.
    Dr. Gupta, explained that from the immunizations w/ Thimerasol, the brain started to swell which impeded the proper growth of the neurological development, brain damage!
    When I hear about groups trying to find the “cure”, it makes me nuts. Find the cause then eliminate that. My son was lucky to have those infusions as the neurological network began to grow. He still suffers from “brain damage”/ Autism, as the previous damage could not be repaired. As these kids’s immune system develops, the inflammation diminishes and the brain/neurological system continue to grow, however the previous damage will never be reversed, at least now. This is what happened to my child and I think the kids that received immunizations between the years 1990 thru 2000.

  6. Jodi Jarvis
    November 13, 2010 at 12:06 am

    Just want to share our experience with mitochondrial mutations. It turns out that I am a carrier of a mitochondrial mutation, specifically, G15257a. It is hard to find info on this mutation but it is associated with a host of organs/systems: the heart, the kidneys, the GI tract, muscule issues, and the most noted, a condition called Leber’s Optical Myopathy which, if it does occur, can lead to blindness.

    My son has PDD-NOS and was recently given an implanted cardiac device (a pacemaker/defibrillator) for irregular electrical patterns that we were lucky–and I mean that, truly–to have found. He was hospitalized for dehydration because he was having what we now believe were abdominal migranes. An EKG revealed the heart conditions (Wolf-Parkinson-White & Hypertrophic Cardiomyopathy).

    My son is doing great but we certainly aren’t “finished” working out a bearable schedule that incorporates both regular life (school and activities) with the necessary medical appointments.

    And, fortunately, we live just outside Boston!

  7. November 17, 2011 at 9:54 pm

    Has anyone looked into the relationship of fluoride and mitochondrial disease. Fluoride is a toxic waste that has been forced on us by an unscrupulous government and big business and big pharma. I’m not a doctor or scientist, but I’ve read enough to know that many things that are almost mandatory for the “We the people” is not good for “We the people”. Please read the book Vaccination is not immunization by Dr. Tim O’shea or go to his website.

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