What Happens in Mitochondrial Dysfunction?

While there is no known cure for mitochondrial dysfunction, treatment aims to manage symptoms and improve quality of life.

Mitochondria is the powerhouse of cells. They produce energy and are present in cells throughout the body. Mitochondrial dysfunction is a condition where they lose their ability to generate enough energy for bodily functions. This can disrupt organ functions and reduce metabolic activities. Severe mitochondrial dysfunction can cause organ failure and death.

Mitochondrial dysfunction can lead to:

• Decreased energy production: The most obvious consequence of mitochondrial dysfunction. Symptoms include fatigue, exercise intolerance, muscle weakness, etc.
• Cell damage: Mitochondrial dysfunction can produce reactive oxygen species (ROS), which can lead to inflammation and tissue damage.
• Neurodegenerative disorders
• Multiple organ dysfunction and failure

How mitochondrial dysfunction affects organs

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

• Heart

• Mitochondrial dysfunction causes 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.

Causes of mitochondrial dysfunction

Mitochondrial dysfunction can be caused by:

• 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 and 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 diseases: 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, damaging the mitochondria.

Diagnosis of mitochondrial dysfunction

Your doctor may note your medical history along with your family history. Usually, people with mitochondrial dysfunction present with generalized symptoms; diagnosis is challenging. The doctor conducts a 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.

Treatment options for mitochondrial dysfunction

While there is no known cure for mitochondrial dysfunction, certain measures can help manage symptoms and improve quality of life.

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