Key points
- Mitochondria are small structures in the cells of the body that produce energy.
- Mitochondrial function is different or reduced in people with Down syndrome.
- Many factors can contribute to mitochondrial dysfunction, including genetics, medications, pollution, aging, and some viruses.
- Healthy lifestyle habits and possibly some supplements may help improve mitochondrial function.
- Scientists are actively researching how mitochondria work, causes of impairment, and ways to improve function.
What are mitochondria?
Mitochondria are small structures inside cells. They are often called the “powerhouses” of the cell because they make about 90% of the energy cells need.
What can cause mitochondrial dysfunction?
There are conditions (such as Down syndrome), certain medications, environmental toxins, and other factors that can cause mitochondrial dysfunction (mitochondria not working as well as they should). There are also diseases, called primary mitochondrial diseases, in which there are mutations (changes) in specific genes that alter mitochondrial function.
It should be noted that the dysfunction in Down syndrome is different from the primary mitochondrial diseases. While researchers are developing a growing understanding of how mitochondria work differently in people with Down syndrome, current research indicates that there may be some overlap, but there are differences in severity, type of mitochondrial dysfunction, and treatment.
Other possible causes of mitochondrial dysfunction include:
- Several genetic conditions (in addition to Down syndrome)
- Some medications such as:
- amiodarone
- metformin and other biguanides
- statins
- valproic acid
- zidovudine
- haloperidol
- certain anesthetics (like halothane)
- some antibiotics (like chloramphenicol)
- chemotherapy drugs (like doxorubicin)
- aspirin
- Some viral infections
- Some environmental toxins (pollution)
- Aging
Mitochondrial dysfunction is linked to several health conditions. It is not clear whether the mitochondrial dysfunction causes the condition, the condition causes the mitochondrial dysfunction, or other factors cause both. Conditions linked to mitochondrial dysfunction include:
- Alzheimer’s disease
- Parkinson’s disease
- Huntington’s disease
- Amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease)
- Diabetes
- Cancer
- Heart disease
- Epilepsy
- Obesity
What are symptoms of mitochondrial dysfunction?
Mitochondrial dysfunction can cause a large variety of symptoms. A partial list includes:
- Fatigue
- Muscle weakness, pain, and/or low muscle tone
- Vision or hearing loss
- Developmental delays or cognitive impairment
- Diarrhea or constipation
- Unexplained vomiting
- Acid reflux
- Swallowing problems
- Seizures
- Migraine headaches
- Breathing problems
- Fainting
Can mitochondrial function be improved?
Research is ongoing, but there are steps that are known or suspected to support healthier mitochondria.
Lifestyle habits
In general, healthy lifestyle habits support overall health and mitochondrial health. These include:
- Regular exercise
- Good sleep
- Healthy diet
- Avoid overeating and limit added sugars. The Mediterranean diet and intermittent fasting may also be beneficial.
Medication review
If you are taking a medication (see list above) that might affect mitochondrial function, talk with a healthcare professional about the pros and cons. Do not stop or change medicines without medical guidance.
Supplements
Some supplements may support mitochondrial function, but research on effectiveness and potential risks is limited. Specifically, there is no evidence from clinical studies regarding the benefits or risks (safety) of these supplements in people with Down syndrome when taken to support mitochondrial function. Information regarding effectiveness or safety is especially limited when the supplements are used with other supplements or medications. It is important to talk with a healthcare professional before starting any supplement.
Some supplements that may help mitochondrial function include:
- Coenzyme Q10
- Idebenone
- L-carnitine
- Alpha-lipoic acid
- B vitamins (riboflavin, thiamine, biotin)
- Creatine monohydrate
- Vitamins C and E
- Resveratrol and pterostilbene
- L-arginine
- Bioactive plant compounds (curcumin, berberine, quercetin, capsaicin)
- NAD+ precursors (nicotinamide riboside, nicotinamide mononucleotide)
- Elamipretide (SS-31)
Note: Some of the primary mitochondrial diseases have specific treatments or supplementations that are recommended. A healthcare professional can advise on the right treatment. The Mitochondrial Care Network provides more information and lists centers that specialize in these conditions.
How is mitochondrial function assessed?
Testing may include:
- Blood tests
- Spinal fluid (CSF) tests for certain biomarkers
- Genetics testing
- Muscle biopsy
- MRI of the brain
Resources
Down syndrome
Gastroesophageal Reflux Disease
General
Mitochondria and Health (National Institutes of Health)
Mitochondrial Diseases (Cleveland Clinic)
References
Tan KL, Lee HC, Cheah PS, Ling KH. Mitochondrial dysfunction in Down syndrome: From pathology to therapy. Neuroscience. 2023;511:1-12. doi:10.1016/j.neuroscience.2022.12.003
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