Mitochondrial Dysfunction and Autism: What You Need to Know
“...the better a species does at protecting it’s mitochondria,
the longer a species lives.”
What is mitochondrial dysfunction?
Remember learning about mitochondria in high-school biology? Maybe you had a 3D model of an animal cell, where you could see all the organelles inside. The mitochondria typically look like kidney beans, with a bunch of squiggly lines inside. Maybe you remember that common phrase which seems to be etched into my brain - “the mitochondria are the powerhouse of the cell”. They are indeed, little energy factories. Mitochondria take the molecules from the foods we eat and turn them into a form of energy that our bodies can use, called ATP. Our brains, muscles, heart and gastrointestinal (GI) tract are some of the most energy-hungry organs, they need a lot of ATP to perform their unique and critical functions. Now imagine that the mitochondria aren’t working properly, they can’t create enough energy. This is called mitochondrial dysfunction [1].
What are the causes?
Mitochondrial dysfunction can be caused by a number of things. It can be due to a genetic mutation or environmental stressors. Mitochondria are extremely susceptible to nutrient deficiencies, toxins like heavy metals and pesticides from food, water, air or medications and oxidative damage [2]. Ironically enough, the main source of oxidative damage from free radicals within the cell is mitochondria themselves. As a by-product of their work, mitochondria produce free radicals, also known as reactive oxygen species. The more “helper molecules” available to help protect the mitochondria, the better because as damage accumulates more and more mitochondria are affected and the dysfunction becomes more severe. Research has shown that people with autism have increased oxidative stress and reduced activity of those “helper molecules” which protect against oxidative damage [3].
What are the symptoms of mitochondrial dysfunction and how do you test for it?
The symptoms of mitochondrial dysfunction are incredibly varied, which makes this a difficult condition to diagnose. Mitochondrial dysfunction can manifest differently even among family members, it all depends on which organ systems are affected in that particular person. The organs that are affected most often are those that require the most energy; the heart, brain, muscles, GI tract. Common symptoms include fatigue and muscle weakness, exercise intolerance, poor growth, vision and hearing problems, GI issues like reflux, cramping, diarrhea and/or constipation, seizures, developmental delays and autism or autism-like features [4]. This begs the question, is mitochondrial dysfunction a feature of autism or is it a cause? Researchers are working to shed light on this.
As far as testing, genetic sequencing of mitochondrial or nuclear DNA could help determine if the cause is genetic mutation. Biochemical testing of blood and urine is also often done. Other tests would be based on symptoms and what organs of the body are affected. For example, with neurological symptoms an MRI may be done. If vision is impaired, eye examinations would be given. Muscle tissue biopsy is sometimes done. Cardiac symptoms would warrant an EKG.
Because of the variability in how the condition manifests, there is no consensus guideline to diagnose mitochondrial dysfunction at this time [2]. A combination of signs, symptoms and the results of appropriate tests are considered before giving a diagnosis. If you suspect mitochondrial dysfunction in your child with autism, one of the best actions is to record the signs and symptoms that your child mentions or displays. Record the severity and frequency. Remember that for a non-verbal child, signs may look different than you might expect. For example, head banging may be a sign of headache. Bending over furniture or otherwise applying pressure to the belly may be a sign of GI pain. Keep a specific and accurate record over a period of weeks or months and discuss your concerns with your healthcare practitioner.
It may also be a good idea to test blood levels of nutrients like L-carnitine, CoQ10, or B vitamins, as these supplements often benefit those with mitochondrial dysfunction. [5]
How can I support and protect the mitochondria?
There are a whole host of things we can do to support our mitochondria:
Support healthy sleep habits
This could mean turning off electronics a few hours before bed, giving your child a bath, using essential oils, gentle massage, dimming the lights and keeping noise to a minimum, or just having a calming bedtime routine.
Reduce exposure to toxins
This could mean choosing organic food when possible, using a water filtration system or air purifier, doing a critical review of personal care and household products, evaluating your home for common sources of heavy metals or mold.
Exercise
This can be difficult if the person often feels tired or weak but even gentle exercise can strengthen the muscles, cause them to grow and signal the production of new mitochondria. Sweating as a result of physical activity is also a way to remove toxins from the body.
Optimize nutrition
Dietary support is often focused on providing micronutrients that the mitochondria need to perform their tasks as well as antioxidants to reduce oxidative stress and damage.
There is some evidence to suggest that a diet lower in carbohydrate and higher in fat is protective [6].
A number of supplements like L-carnitine, ubiquinol or coQ10, B vitamins, N-acetyl cysteine (NAC), alpha-lipoic acid and resveratrol [5]
Avoid unnecessary use of medications that may damage mitochondria
These include aspirin, acetaminophen, antibiotics, NSAIDS, statins [1]
This article is just scraping the surface when it comes to the many important functions of the mitochondria. If you suspect your child has mitochondrial dysfunction, reach out to me. I’d love to talk with you about your concerns and how we can use medical nutrition therapy to support mitochondrial health and help your child feel their very best.
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References
[1] Pizzorno J. Mitochondria-Fundamental to Life and Health. Integr Med (Encinitas). 2014;13(2):8-15.
[2] Niyazov DM, Kahler SG, Frye RE. Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Mol Syndromol. 2016;7(3):122-37.
[3] Griffiths KK, Levy RJ. Evidence of Mitochondrial Dysfunction in Autism: Biochemical Links, Genetic-Based Associations, and Non-Energy-Related Mechanisms. Oxid Med Cell Longev. 2017;2017:4314025.
[4] Mitochondrial Diseases. Cleveland Clinic Website. Accessed 9 July 2020. Link.
[5] Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE. Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder. Mol Diagn Ther. 2018;22(5):571-593.
[6] Keto for Mitochondrial Disorder. Charlie Foundation Website. Accessed 7 Feb 2020. Link.
Blog Contributed by Elisa Rocks, RDN
Elisa is a Registered Dietitian Nutritionist (RDN) based in Upstate New York specializing in children with Autism, ADHD, and developmental conditions.
You can find her on Instagram at @elisarocksrdn or on her website!
