What is Mitochondrial Disease?

Mitochondria are the "energy factory" of the human body. Several thousand mitochondria can be found in nearly every cell. Mitochondria also play several fundamental roles in the body, such as converting chemicals from the foods we eat into energy as well as to process oxygen. Mitochondria produce 90 percent of the energy the human body requires to function accordingly. The purpose of the following article is to describe an overview of mitochondrial disease and well-being. 

What are Mitochondrial Diseases?

Mitochondrial diseases are characterized as chronic, genetic, and often inherited health issues which ultimately occur when mitochondria fail to produce enough energy for the human body to function properly. Mitochondrial diseases may develop from birth however they can frequently develop at any age. Mitochondrial disease can affect any region of the human body, including the cells of the brain, muscles, heart, liver, kidneys, pancreas, eyes, ears, and nerves, among other structures. 

When the mitochondria don't function as well as they should because of another health issue, mitochondrial dysfunction occurs. Furthermore, many health issues can cause secondary dysfunction and result in other neurological diseases, such as Alzheimer's disease, Lou Gehrig's disease, and muscular dystrophy. People with secondary dysfunction don't have genetic mitochondrial disease and do not need to be concerned about the ongoing development or worsening of symptoms. 

What are the Symptoms of Mitochondrial Disease?

Symptoms of mitochondrial disease depend on which cells of the human body are affected. Symptoms can develop at any age, involve one or more organs, and may range from mild to severe. Even patients within the same household, having the exact same mitochondrial disease can have gaps in symptoms, severity, and age of onset or beginning of symptoms. 

Symptoms of mitochondrial diseases can include: 

• Poor growth
• Muscle pain, muscle weakness, exercise intolerance, low muscle tone
• Vision and/or hearing problems
• Learning disabilities, delays in development, mental retardation
• Autism, autism-like features
• Heart, liver or kidney diseases
• Gastrointestinal disorders, swallowing difficulties, constipation or diarrhea, vomiting, cramping, acid reflux
• Diabetes
• Increased risk of infection
• Neurological problems, seizures, migraines, strokes
• Movement disorders
• Thyroid problems
• Respiratory problems
• Lactic acidosis or a buildup of lactate
• Dementia

What are the Causes of Mitochondrial Disease?

In many people, primary mitochondrial disease is a genetic health issue which can be inherited in several ways. To understand inheritance types, it is helpful to find out more about genes and DNA. Genes are substances which provide us our traits, like brown eyes or blue eyes. Genes contain DNA, which is the "blueprint" which gives each person their distinctive make-up. 

In normal circumstances, a child inherits one gene from the father and one gene from the mother. A child with a mitochondrial disease doesn't receive the pair of genes from the parents. The gene has mutated or has become defective. Learning how the mitochondrial disease is inherited helps predict the prospect of passing the disease(s) to children. 

Inheritance types of mitochondrial disease are: 

• Autosomal recessive inheritance: The child receives one mutated copy of a gene from each parent. There is a 25 percent chance that each child in the family will inherit a mitochondrial disease.
• Autosomal dominant inheritance: The child receives one mutated copy of a gene from either parent. There is a 50 percent chance that each child in the family will inherit a mitochondrial disease.
• Mitochondrial inheritance: In this unique type of inheritance, the mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers. There is a 100 percent chance that each child in the family will inherit a mitochondrial disease.
• Random mutations: Occasionally, genes develop a mutation of their own which is not inherited from a parent.

How are Mitochondrial Diseases Diagnosed?

Mitochondrial diseases can be difficult to diagnose by a healthcare professional because mitochondrial diseases can ultimately affect a variety of organs and tissues in the human body and patients can also have a variety of symptoms. There is currently no single lab test or diagnostic test which can confirm the identification of mitochondrial disease. That is why a referral to a medical facility with healthcare professionals who focus on these diseases is essential to making the diagnosis. 

Diagnosis begins with a series of evaluations and tests which may include: 

• A review of a patient’s family history
• A complete physical evaluation
• A neurological evaluation
• A metabolic evaluation which includes blood and urine tests, and, if needed, a cerebral spinal fluid test

Other evaluations, determined by the regions of the human body and the patient's symptoms which may include: 

• Magnetic resonance imaging (MRI) or spectroscopy (MRS) for neurological symptoms
• Retinal exam or electroretinogram (ERG) for vision symptoms
• Electrocardiogram (EKG) or echocardiogram for symptoms of heart disease
• Audiogram or auditory-brainstem evoked responses (ABER) for hearing symptoms
• Blood test to detect thyroid dysfunction if the patient has thyroid problems
• Blood test to perform genetic DNA testing

Testing may include biochemical testing. Biopsies of skin and muscle tissue may also be utilized for diagnosis. 

How are Mitochondrial Diseases Treated?

Unfortunately, there is no cure for mitochondrial disease, however, treatment can help reduce symptoms or slow the decline of overall well-being. Treatment varies from patient to patient and depends on the severity and the mitochondrial disease characterized. There is absolutely no way to predict a patient's reaction or forecast how that person will be affected in the long-term. No two people respond the same way to the same treatment even if they have the same mitochondrial disease. 

Treatments for mitochondrial disease may include: 

• Vitamins and supplements, including Coenzyme Q10; B complex vitamins, such as thiamine (B1) and riboflavin (B2), Alpha lipoic acid, L-carnitine (Carnitor), Creatine, and L-Arginine.
• Exercise and physical activity, including endurance exercises and resistance/strength training to increase muscle strength. Endurance exercises include walking, running, swimming, dancing, cycling and others. Resistance/strength training includes exercises such as sit-ups, arm curls, knee extensions, weight lifting and others.
• Conserving energy. Don’t try to do too much in a short period of time. Pace yourself.
• Other treatments including speech therapy, respiratory therapy, physical therapy, and chiropractic care, among others.

Avoid situations which can make the health issue worse. This includes exposure to cold and/or warmth, starvation, lack of sleep, stressful situations, and usage of alcohol, smokes and monosodium glutamate or MSG, a flavor enhancer commonly added to Chinese foods, canned vegetables, soups, as well as processed meats, among other processed foods. 

Mitochondrial diseases are long-term, genetic, and frequently inherited health issues which occur when the mitochondria fail to produce enough energy for the human body to function accordingly. According to research studies, approximately one in 5,000 people has a genetic mitochondrial disease. Chiropractic care is an alternative treatment option which can help relieve symptoms associated with a variety of health issues, including mitochondrial diseases. Many chiropractors are qualified and experienced in the treatment of neurological diseases. - Dr. Alex Jimenez D.C., C.C.S.T. Insight

The purpose of the article above is to describe mitochondrial disease and its effect on overall health and wellness. Neurological diseases are associated with the brain, the spine, and the nerves. The scope of our information is limited to chiropractic, musculoskeletal and nervous health issues as well as functional medicine articles, topics, and discussions. To further discuss the subject matter above, please feel free to ask Dr. Alex Jimenez or contact us.

Curated by Dr. Alex Jimenez