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How Can Mitochondrial Dysfunction Cause Disease?

Jonathan Vellinga, MD

Mitochondrial dysfunction may not be something that you hear of often (or ever!), but it is something that affects a significant portion of the population. It is tied to many neurodegenerative diseases, such as dementia and Alzheimer’s, cancer, and even common conditions like diabetes and premature aging. While it may be tricky to detect at first, the good news is that there are a number of regenerative and functional treatments that can help restore your mitochondrial function and improve your overall health.

How Can Mitochondrial Dysfunction Cause Disease?

Symptoms of Mitochondrial Dysfunction

The most common symptoms of mitochondrial dysfunction are often very similar to other chronic diseases, making the process of diagnosis quite tricky or elongated. While any of the symptoms below may indicate underperforming mitochondria, a combination of three or more symptoms or malfunctioning organ systems is a good indicator of mitochondrial dysfunction (1, 3, 4):

  • 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

  • Lactic acidosis

What is mitochondrial dysfunction?

Mitochondria are in every cell of the body, and each cell contains thousands (1). 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). There are a number of processes that it uses to do so, and all together the mitochondria create about 90% of the energy that we need to operate (1, 2). So, it follows that the mitochondria’s ability to generate enough ATP also affects our general metabolic health, organ function, and cellular longevity and function (3, 4).

Because the processes of the cell and mitochondria are so complex, there are many factors that can affect function, including changes in mRNA, protein levels, enzyme activity, and changes to the mitochondrial structure (1, 2, 3). Any of these factors can be affected by genetics, other conditions such as insulin resistance or neurological disorders, and even environmental toxins (1, 2, 3, 5). Mitochondrial dysfunction can be broken into two categories: primary mitochondrial dysfunction disorders (inherited genetic disorders) or secondary mitochondrial dysfunction (development due to other conditions) (1, 2, 3). While most cases of genetic mitochondrial dysfunction become apparent early in childhood, it is possible to begin exhibiting symptoms in adulthood due to either genetic or secondary disorders (1, 4).

Diagnosing Mitochondrial Dysfunction

Diagnosing Mitochondrial Dysfunction

Because there are so many types of mitochondrial diseases that share a number of symptoms with the most common chronic illnesses, many people with mitochondrial disease may go undiagnosed for years (1, 4). And, because the specific cause(s) and dysfunctional processes can vary so much from person to person, there is no single test that can confirm mitochondrial dysfunction. So, it is up to the patient and physician to work together to complete a physical and neurological exam, map out their health history, and conduct any relevant tests to rule out all other possibilities. While the most common tests revolve around examining metabolism via urine and blood tests, your doctor may recommend an MRI, EKG, audiogram, retinal exam, skin or muscle biopsies, or even thyroid, DNA, or biochemical testing (1).

This is where pairing with a physician at Temecula Center for Integrative Medicine can be a huge asset in bringing clarity to both diagnosis and treatment options. Functional medicine doctors excel at partnering with their patients to truly understand their total health, making knowledgeable connections between symptoms, previous health events, genetics, toxic exposure, and lifestyle. Since we focus on comprehensive health and strongly believe that we are holistic beings, functional doctors are often able to see correlations and root causes that many patients have not found elsewhere. We also focus on preventative measures, employing services like executive physicals that can help detect a number of different dysfunctions early on, allowing us to find treatment options to mitigate illness and prevent severe symptoms from developing in the first place.

Treatment Options for Mitochondrial Dysfunction:

Functional Medicine

Functional medicine focuses on treating root causes of disease and dysfunction in order to boost the body’s natural ability to heal, recover, and function well. In the case of mitochondrial dysfunction, there are many different approaches to treatment, depending on your individual needs. There may be one underlying condition, such as insulin resistance or diabetes, that is causing the many symptoms of secondary mitochondrial dysfunction (3). Conversely, primary mitochondrial dysfunction due to DNA abnormalities may be the cause of many different symptoms and disorders. So, while all treatment plans will focus on helping you feel better, the focus may be different than you expect.

If your insulin resistance or diabetes is the underlying cause, the primary aim of treatment will be to improve blood sugar and insulin sensitivity, while also adding in some of the supplements and lifestyle changes listed below to help promote better mitochondrial function (2, 3). Other common root causes may include neurotoxins, neurodegenerative diseases, chronic infections, or leaky gut syndrome, in which case treatments would revolve around healing those damaged tissues and systems (1, 4, 5, 6).

For those with primary mitochondrial diseases or those who need extra mitochondrial function support while focusing on other root causes, there are a number of treatment options. The first is a combination of vitamins and supplements that are crucial to the many aspects of mitochondrial function. Studies have shown that a combination of supplements including A-Lipoic Acid, Coenzyme Q10, NADH (Nicotinamide Adenine Dinucleotide), B-complex vitamins (Thiamine and Riboflavin), Creatine, L-Carnitine, and/or L-Arginine can all lead to improved mitochondrial function and a reduction of symptoms, especially chronic fatigue (1, 2).

Lifestyle changes may also bring benefits. Adding in exercises like light cardio and strength training, altering your normal schedule to better pace yourself and avoid exhaustion, and avoiding triggers that make your symptoms worse (like exposure to cold or heat, toxins, alcohol, cigarettes, MSG, food intolerances, stressful situations, or even prolonged lack of food or sleep) could all bring benefit (1, 5, 6). Depending on the severity of physical symptoms, certain therapies such as speech, physical, or even occupational therapies may also help improve function. We would love to work with you to determine an exercise, diet, and overall lifestyle plan to help you achieve some of these changes successfully.