Mitochondrial Dysfunction

Jun 25

What is Mitochondrial Dysfunction?

You might have learned “the mitochondria are the powerhouse of the cell” in science class - and that’s absolutely true!
Mitochondria are inside our cells and generate energy for our bodies. Think of them as 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.
The brain, muscles, liver, eyes, heart, and gastrointestinal (GI) tract are some of the most energy-hungry organs. They need a lot of ATP to perform their functions. When the mitochondria aren’t working properly, they can’t create enough energy. This is called mitochondrial dysfunction. [1]
There is some evidence to suggest that those with ASD are more likely to have mitochondrial dysfunction. Estimates range from 30-80% of those with ASD may also have mitochondrial dysfunction. [8,9, 20]
It is not clear if mitochondrial impairments cause ASD or if they are merely a feature of the condition. [12]
The symptoms of mitochondrial dysfunction are incredibly varied, which makes this a difficult condition to diagnose. There are a few diagnostic options including:
- Genetic sequencing of mitochondrial or nuclear DNA could help determine if the cause is a genetic mutation
- Biochemical testing with a urine Organic Acids Test (OAT) from Vibrant America or Great Plains Labs

Signs & Symptoms

Mitochondrial dysfunction can manifest differently even among family members. Symptoms will be based 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. Mitochondrial dysfunction has been described in immune and buccal (cheek) cells, fibroblasts, muscle and gastrointestinal tissue and the brains of individuals with ASD. [11]

A combination of signs, symptoms and the results of appropriate tests are considered before giving a diagnosis.

Symptoms of mitochondrial dysfunction include [4]:
Fatigue and muscle weakness
Exercise intolerance
Poor growth or hypotonia (low muscle tone)
Vision and hearing problems
GI issues like reflux, cramping, diarrhea, and/or constipation
Seizures
Developmental delays (speech etc) and autism or autism-like features

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 a 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.

Contributing Factors

Mitochondria are very delicate and so dysfunction can be caused by a number of things including [2]:

Genetic mutations
Environmental stressors like [11]:
- Nutrient deficiencies
- Toxins like heavy metals, medications, mold/mycotoxins, and pesticides (like glyphosate) from food, water, or air
- Oxidative damage and inflammation illnesses like Lyme disease or viral infections

Ironically, 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” (aka antioxidants) available to 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]

Next Steps

Diet

Ketogenic diet
- Some research suggests that the high fat/low carb ketogenic diet may be beneficial for those with mitochondrial dysfunction. [6, 14, 21] However, this diet may be challenging for children with autism who are often picky eaters and prefer carbohydrate-rich foods.
- Nutritional ketosis may be beneficial by inducing mitohormesis, which causes an increase in mitochondrial capacity and self-produced antioxidant defense. [15]
- If you decide to trial a ketogenic diet, do it with the guidance of a healthcare provider
Antioxidant foods may be beneficial including:
- Co-enzyme Q10 - meat, poultry, fish, and nuts
- Selenium - brazil nuts, yellowfin tuna, sardines, ham and shrimp
- Manganese - mussels, hazelnuts, pecans, brown rice, chickpeas, spinach and pineapple
- Vitamin A - beef liver, sweet potato, spinach, pumpkin and carrots
- Vitamin C - red peppers, oranges, grapefruit, kiwi, broccoli and strawberries
- Vitamin E - wheat germ, sunflower seeds, almonds, hazelnuts, peanuts
- Glutathione - sulfur-rich foods are the building blocks of glutathione and these include garlic, onions, and cruciferous veggies like broccoli, cabbage, kale, and cauliflower
Foods containing B vitamins - meat, poultry, fish, eggs, dairy, nutritional yeast, chickpeas, leafy greens, sunflower seeds, avocado, and whole grains
Carnitine-rich foods may be beneficial as well. Carnitine levels are highest in animal foods like beef, chicken, fish, and milk.

Supplements

Supplementation is often focused on providing micronutrients that the mitochondria need to perform their tasks, as well as antioxidants to reduce oxidative stress and damage.

A number of supplements have been studied including:
- L-Carnitine (aka acetyl-l-carnitine)[13,20]
- Ubiquinol or CoQ10 [13]
- B vitamins [13]
- Selenium [13]
- N-acetyl cysteine (NAC) [23]
- Antioxidants like alpha-lipoic acid and resveratrol [7, 13, 17]
- Butyrate-producing probiotics containing strains of Firmicutes [22]

Lifestyle

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, using a weighted blanket, using white noise or calming music, or just having a calming and consistent bedtime schedule and routine.
- See more about sleep in the Sleep Issues note
Reduce exposure to toxins
- This could mean choosing organic food when possible, using a water filtration system or air purifier, taking a close look at personal care and household products for parabens or phthalates, evaluating your home for common sources of heavy metals or mold.
- See more about reducing toxin exposure in the Toxic Load note
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.
Avoid unnecessary use of medications that damage mitochondria
- These include aspirin, acetaminophen, antibiotics, NSAIDs, statins [1]

DISCLAIMER: Before starting any supplement or medication, always consult with your healthcare provider to ensure it is a good fit for your child. Dosage can vary based on age, weight, gender, and current diet.