The challenges of living with Mitochondrial Dysfunction.

All of us have little “power generating plants” in every cell in our bodies except red blood cells.  These units are called mitochondria.  Mitochondria convert energy from food molecules into adenosine triphosphate (ATP) which power almost every function within a cell.  Without our mitochondria, the cell would starve for energy and die.

David J. Miller, RPh, PhD, FIACP, FACA Owner and Chief Formulation Scientist

David J. Miller, RPh, PhD, FIACP, FACA
Owner and Chief Formulation Scientist

Sometimes these vital components can become “sick” or damaged.  Mitochondrial disorders affect about 1 in 4000 people.  These disorders are often inherited and can be a result of genetic mutations.  Other causes include drugs, infections, environmental toxins, oxidative stress caused by free radicals, nutrient deficiencies or unknown causes.  Some of the drugs known to deplete nutrients essential for the mitochondria to work effectively are included in table-1[1].

The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are[2]:

  • Poor growth
  • Loss of muscle coordination, muscle weakness
  • Neurological problems, seizures
  • Autism, autistic spectrum, autistic-like features
  • Visual and/or hearing problems
  • Developmental delays, learning disabilities
  • Heart, liver or kidney disease
  • Gastrointestinal disorders, severe constipation
  • Diabetes
  • Increased risk of infection
  • Thyroid and/or adrenal dysfunction
  • Autonomic dysfunction
  • Neuropsychological changes characterized by confusion, disorientation, and memory loss.

If the affected mitochondria are in the muscles, the nerves or certain parts of the brain, the symptoms will be more severe because these tissues require more energy to function properly.

As you can imagine, there are several challenges to living with mitochondrial dysfunction.  The disease is poorly understood, hard to diagnose and, as mentioned, varies significantly in severity from person to person.  Mitochondrial disease often lacks visible outward signs and can vary in severity from day to day or even hour by hour.  On a “good day” the patient looks fine and healthy.  They have more energy and appear rested.  On a “bad day”, the patient appears tired to significantly ill.  They are obviously fatigued and have significant illness.  Repeated “bad days” often lead to overall decline and the patients have difficulty returning to baseline, resulting in a slow and steady erosion of health2.

But what can you do to improve mitochondrial health or slow the progression of mitochondrial dysfunction?  Next month, I will explore some strategies and options that you have to fight mitochondrial disease.


Medication Symptoms Mechanism
Valproic acid Hepatopathy; infrequently direct encephalopathy Inhibition of fatty acid oxidation, the citric acid cycle, and oxidative phosphorylation; carnitine depletion; complex IV inhibition (contraindicated in mitochondria depletion syndromes)
Antiretrovirals Peripheral neuropathy, liver dysfunction, myopathy Impairment of mitochondrial DNA replication causing mitochondrial DNA depletion; carnitine deficiency, lactic acidosis, lipodystrophy
Statins Myopathy Multiple postulated effects, including CoQ10 depletion
Aspirin Reye syndrome Inhibition and uncoupling of oxidative phosphorylation
Aminoglycoside antibiotics Hearing loss, cardiac toxicity, renal toxicity Impaired mitochondrial DNA translation
Aminoglycoside and platinum chemotherapeutics Hearing loss, cardiac toxicity, renal toxicity Impaired mitochondrial DNA translation
Acetaminophen Hepatopathy Oxidative stress
Metformin Lactic acidosis Inhibition of oxidative phosphorylation, enhanced glycolysis
Beta-blockers Reduced exercise tolerance Oxidative stress
Steroids Reports of deterioration in Kearns-Sayre syndrome Unknown


[1] Sumit Parikh, MD, Russell Saneto, DO, PhD, Marni J. Falk, MD, Irina Anselm, MD, Bruce H. Cohen, MD, Richard Haas, MB, BChir, MRCP, and The Mitochondrial Medicine Society.  A Modern Approach to the Treatment of Mitochondrial Disease.  Curr Treat Options Neurol. 2009 Nov; 11(6): 414–430.
[2] From
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