When someone is fatigued, their quality of life suffers. Trends over the years show the number of people who feel very tired or exhausted is growing. A survey found 43 percent of Americans do not get enough sleep to mitigate critical risks that can jeopardize safety at work and on the roads, including the ability to think clearly, make informed decisions and be productive.
Fatigue may rank as one of the most frustrating symptoms for both patients and providers. One of the key recommendations for patients with fatigue has been exercise, yet for some patients, that may worsen symptoms. One underlying cause of fatigue is mitochondrial dysfunction. We now know that fatigue is a frequent symptom in mitochondrial disease.
Past research has predominantly focused on the role of mitochondrial dysfunction on disease pathology. However, some studies have investigated how mitochondrial dysfunction is associated with the development of distressing symptoms such as fatigue, neuropathic pain, weaknesses and depression.
Mitochondria are in every cell of the body and each cell contains thousands. Known as the powerhouse of the cell, mitochondria process oxygen and help convert substances in our food into energy that the body can use called ATP (adenosine triphosphate). The mitochondria create about 90 percent of the energy that we need to operate. The mitochondria’s ability to generate enough ATP also affects our general metabolic health, organ function and cellular longevity and function.
The most common symptoms of mitochondrial dysfunction are often very similar to other chronic diseases, making the process of diagnosis quite tricky. A combination of three or more symptoms or malfunctioning organ systems is a good indicator of mitochondrial dysfunction. Symptoms can include; Excessive, chronic fatigue; muscle weakness, pain, low tone, exercise intolerance or movement disorders; vision or hearing problems; dementia; neurological dysfunction, seizures, strokes, migraines, fainting; heart diseases; diabetes, insulin resistance; liver, kidney or pancreas diseases; gastrointestinal disorders, unexplained diarrhea, constipation, vomiting, cramping, reflux and even swallowing difficulties; thyroid problems; respiratory problems; delays in development, learning disabilities, atypical cerebral palsy or autistic features; poor growth, low weight; and lactic acidosis.
Low levels of the cellular energy currency ATP can lead to having weak metabolism and feeling slow. Improving mitochondrial function or correcting dysfunction can increase the amount of ATP energy available for use by cells and improve fatigue symptoms. Damage to the mitochondria from peripheral inflammation is also implicated in the fatigue felt by patients with neuroinflammation chronic fatigue and some autoimmune conditions.
A study suggests that chronic exposure to reduced sleep – less than six hours a day – and insufficient time for recovery sleep could have gradual deleterious effects, leading to alterations in the neuroendocrine, immune and inflammatory systems. Fatigue is also frequent in patients with diabetes and this symptom appears to be more prominent in type 2 than type 1 diabetes patients.
Mitochondrial dysfunction can be of primary (inherent) or secondary (acquired dysfunction) origin. Primary dysfunction results from mitochondrial DNA (mtDNA) mutations inherited from mothers, who are the sole contributors of mitochondria to their offspring. Secondary mitochondrial dysfunction results from the influence of external mechanisms such as environmental or pharmacologic toxins that can damage the mtDNA. Many people with mitochondrial disease may go undiagnosed for years.
Mitochondrial diseases are chronic (long-term), genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. They can affect almost any part of the body, including the cells in the brain, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas. Secondary mitochondrial dysfunction can affect other diseases such as Alzheimer’s, muscular dystrophy, Lou Gehrig’s, diabetes and cancer. One in 5,000 individuals has a genetic mitochondrial disease.
Symptoms of mitochondrial diseases depend on which cells of the body are affected and can range from mild to severe, involve one or more organs and can occur at any age. Symptoms include: Poor growth; muscle weakness, muscle pain, low muscle tone, exercise intolerance; vision and/or hearing problems; learning disabilities, delays in development; autism spectrum disorder; heart, liver or kidney diseases; gastrointestinal disorders, swallowing difficulties, diarrhea or constipation, unexplained vomiting, cramping, reflux; diabetes; increased risk of infection; neurological problems, seizures, migraines, strokes; movement disorders; thyroid problems; respiratory problems; lactic acidosis; and dementia.
In most people, primary mitochondrial disease is a genetic condition that can be inherited in several ways. Under normal circumstances, a child inherits genes in pairs – one gene from the mother and one from the father. A child with a mitochondrial disease does not receive a normal pair of genes from the parents. Sometimes genes develop a mutation of their own that is not inherited from a parent.
There are no cures for mitochondrial diseases, but treatment can help reduce symptoms or slow the decline in health. Treatment varies from patient to patient and depends on the specific mitochondrial disease diagnosed and its severity. There is no way to predict a patient’s response to treatment or predict how the disease will affect that person in the long run. No two people will respond to the same treatment in the same way, even if they have the same disease.
Treatments for mitochondrial disease may include: Vitamins and supplements (including Coenzyme 010, B complex, especially thiamine (B1) and riboflavin (B2), Alpha lipoic acid, L-carnitine, creatine, L-Arginine); exercises (both endurance and resistance/strength training); conserving energy (pace yourself); and other treatments (may include speech therapy, physical therapy, respiratory therapy and occupational therapy).