What Happens in Mitochondrial Dysfunction?

Mitochondrial dysfunction can have significant effects on various organs of the body because they rely on the energy produced by the mitochondria to function normally. The affected organs may cause multiple conditions and disorders.

• Heart
  • Mitochondrial dysfunction causes the following heart disorders:
    • Heart failure: The heart cannot pump enough blood to meet the body's needs.
    • Cardiomyopathy: The heart muscle loses the ability to pump enough blood, eventually leading to heart failure.
    • Arrhythmias: Irregular heartbeats can be serious or even life-threatening.
    • Decreased contractility: With less energy, the ability of the heart muscle to contract and pump blood effectively can be compromised, resulting in decreased blood flow and oxygen delivery to the body.
• Kidneys
  • Mitochondrial dysfunction causes the following renal disorders:
    • Kidney failure: The kidneys cannot effectively filter waste products from the blood.
    • Decreased kidney function: Results in a buildup of waste products in the body.
    • Nephrotic syndrome: Causes protein to leak from the kidneys into the urine.
    • Glomerulosclerosis: Damages the tiny blood vessels in the kidneys and could be present with mitochondrial dysfunction.
• Brain
  • Mitochondrial dysfunction causes the following brain issues:
    • Cognitive problems: Issues with memory, concentration, etc.
    • Neurodegenerative disorders: Parkinson's disease and Alzheimer's disease.
    • Stroke: Disrupted blood flow to the brain results in ischemia of the brain.
    • Seizures: Sudden, uncontrolled electrical disturbances may occur in the brain and manifest as seizures.
    • Movement disorders: Tremors and difficulty with balance and coordination.
• Muscles
  • Mitochondrial dysfunction causes the following muscle problems:
    • Muscle weakness: Lack of energy leads to muscle weakness, especially in the legs and hips.
    • Exercise intolerance: People with mitochondrial dysfunction may have difficulty exercising or tire easily.
    • Myopathy: The functionality of the muscles reduces, which can lead to muscle weakness and wasting.
    • Rhabdomyolysis: Muscle tissues wear down and accumulate toxins, affecting the kidneys and causing kidney failure.
• Gastrointestinal system
  • Mitochondrial dysfunction causes the following gastrointestinal issues:
    • Minor issues: Nausea, vomiting, and pain in the abdomen.
    • Malabsorption: The gut loses the ability to properly absorb nutrients from food.
    • Inflammation: Inflammation of the gastrointestinal tract can lead to abdominal discomfort.
    • Diarrhea: The frequency of passing watery stools increases.
• Lungs
  • Mitochondrial dysfunction causes the following respiratory disorders:
    • Respiratory issues: Breathing difficulties and impaired oxygen uptake are common respiratory complications.
    • Pulmonary hypertension: High blood pressure in the lungs.
    • Bronchitis: Inflammation of the lining of the bronchial tubes.
    • Pulmonary fibrosis: Scarring of the lung tissue.

Mitochondrial dysfunction can be caused by the following:

• Genetic mutations: Some genetic mutations can affect the structure or function of mitochondria, leading to impaired energy production.
• Environmental factors: Exposure to toxins, such as heavy metals and certain medications, can damage mitochondria and cause dysfunction.
• Infections: Viral and bacterial infections can damage mitochondria and disrupt energy production.
• Oxidative stress: The mitochondria get damaged by reactive oxygen species (ROS), which is produced as a byproduct of energy production. High levels of ROS can cause oxidative stress, leading to mitochondrial dysfunction.
• Aging: Advancing age reduces the efficiency of mitochondria and may eventually lead to dysfunction.
• Deficiency of enzymes: Deficiency of primary coenzyme Q10 can contribute to mitochondrial dysfunction.
• Physical inactivity: A sedentary lifestyle can reduce mitochondrial function and eventually cause dysfunction.
• Chronic disease: Diabetes and cardiovascular disease can lead to mitochondrial dysfunction.
• Stress: Physical, emotional, or psychological stress can lead to increased production of ROS and oxidative stress, which damage the mitochondria.

Your doctor may note your complete medical history along with your family history. Usually, people with mitochondrial dysfunction present with generalized symptoms; diagnosis is challenging. The doctor conducts a thorough physical examination and may order various tests to confirm the diagnosis.

Tests used to diagnose mitochondrial dysfunction include:

• Genetic testing: Identifies genetic mutations that may cause mitochondrial dysfunction.
• Biochemical testing: Measures the levels of certain substances, such as lactate and pyruvate, that are produced by the mitochondria. Elevated levels of these substances may indicate mitochondrial dysfunction.
• Muscle biopsy: A small sample of muscle tissue is removed to be examined under a microscope to look for signs of mitochondrial dysfunction.
• Functional testing: A VO2 max test or a maximal exercise test can measure the body's ability to produce energy and may indicate mitochondrial dysfunction.

There is no known cure for mitochondrial dysfunction right now, but certain measures can help manage the symptoms and improve quality of life.

• Medications: Coenzyme Q10, L-carnitine, and riboflavin may help improve the function of mitochondria.
• Dietary changes: A healthy diet rich in nutrients, including vitamins and minerals, may help support mitochondrial function. Some people with mitochondrial dysfunction may benefit from a low-carbohydrate diet.
• Exercise: Regular physical activity can help improve the function of mitochondria and manage symptoms of mitochondrial dysfunction.
• Supplements: Antioxidants and omega-3 fatty acids supplements can support mitochondrial functions.
• Assistive devices: Wheelchairs and oxygen tanks could help people with severe symptoms of mitochondrial dysfunction.
• Physical therapy: Improves strength and functions of muscles.
• Occupational therapy: Improves daily living skills and independence in people with mitochondrial dysfunction.