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What You Need to Know About Mitochondrial Disease

New to the world of mitochondrial disease (“mito” for short)? Continue reading for key facts and figures about what this disease is, its symptoms, and how it works.  

  • It is estimated that one in every 5,000 individuals have mitochondrial disease — a chronic, and typically genetic disorder that occurs when the mitochondria cannot produce enough energy (ATP) to keep the cell alive and healthy (NCBI).   
  • Mitochondrial disease is classified as both rare and progressive. 
  • It is also considered a metabolic disorder – meaning that the body cannot effectively turn food into energy and get rid of waste. 
  • Iarguably isn’t a single disease but more like a collection of conditions that can negatively impact a person’s perception, motor skills, organ function, and energy over time. 
  • Symptoms of mitochondrial diseases depend on which cells of the body are affected. They can range from mild to severe, involve one or more organs, and can occur at any age. Even patients within the same family who have the same mitochondrial disease can have differences in symptoms, severity, and age of onset (Cleveland Clinic) 
  • Symptoms may include:  
    • Muscle weakness or muscle pain 
    • Movement disorders 
    • Neurological problems
    • Vision and/or hearing problems 
    • Learning disabilities 
    • Unexplained vomiting, cramping, reflux 
    • Increased risk of infection 
    • Thyroid problems 
    • Respiratory (breathing) problems 
    • Dementia
  • With the number and type of symptoms and organ systems involved, mitochondrial diseases are often mistaken for other, more common, diseases (Cleveland Clinic). 
  • Here is a list of symptoms that are associated with specific organs that are affected by mito. 
  • Mitochondrial Disease should be suspected when three or more organ systems are involved (UMDF). 
  • Having mito can be like having a cell phone that is very close to running out of battery. Some apps may run for just a short amount of time before the phone turns off completely. 
  • Mitochondrial disorders are typically caused by mutations (acquired or inherited) in mitochondrial DNA (mtDNA). Mitochondrial dysfunction may also be acquired as a result of drug use, infections, or other environmental causes (NIH). 
  • The first pathogenic mutation in mitochondrial DNA was identified in 1988. There have since been 275 other disease-causing mutations identified (National Academy of Sciences). 
  • Mito is very difficult to diagnose because it’s often invisible. It can take over 7 years to reach a proper diagnosis (Mito Action). 
  • Mitochondria are known as the “powerhouse of the cell”, and they are responsible for producing about 90% of cellular energy. 
  • When a cell requires more energy, the mitochondria inside of that cell can reproduce by growing larger, and then dividing themselves. When cells require less energy, mitochondria can become dormant and inactive. Mitochondria can also die due to lack of use. 
  • There are secondary illnesses that have been linked to mitochondrial diseases, including: 
    • Diabetes 
    • Autism 
    • Parkinson’s disease 
    • Alzheimer’s disease 
    • Heart, liver, or kidney diseases 
  • Your mitochondria become weaker and decline in number as you age. Ultimately, all the things we associate with aging – fatigue, excess fat, and a decrease in muscle mass and cognitive ability – are all symptoms of weakening mitochondria (Bulletproof). 
  • There are currently no known cures for mitochondrial disease. 
  • Supportive therapy is one treatment option that can be used to help delay the progression of mitochondrial dysfunction. This therapy may include nutritional management, exercise and/or vitamin or amino acid supplements.