Mito Diseases

Introduction to Mitochondrial Disorders

Virtually unheard of only 20 years ago, and considered as rare only 10 years ago, the mitochondrial disorders, taken together, are now considered to be rather common. For example, research by Dr. Chinnery and colleagues suggests that the genetic mutations associated with ten classical forms of mitochondrial disease are found in one per every two hundred newborns. Currently, one in 4,000 children in the United States will be diagnosed with mitochondrial disease by the age of 10.This equates to nearly 100,000 people with mitochondrial disease in the United States alone.

Mitochondrial Dysautonomia with Functional Disorders

Research by Dr. Boles and his team at Children’s Hospital Los Angeles, conducted with colleagues throughout the world, suggest that mitochondrial dysfunction is an important part of the genetic component of many of the functional and dysautonomic conditions, including autism, chronic fatigue, depression, cyclic vomiting, migraine and other chronic pain syndromes, and sudden infant death. For example, Dr. Boles’ research indicates that mitochondrial DNA sequence variants at 16519 and 3010 have effects on autonomic physiology, and in that capacity affect the risk for the development of several functional or autonomic-related conditions. This does not mean that everyone with these conditions has a mitochondrial disorder. It means that energy metabolism, being a central feature in biology, is one component of the complex cause of disease in many people with functional and dysautonomic conditions. Energy depletion (mitochondrial dysfunction) is not the only cause for these common conditions, but it is an important cause in many sufferers. Therapy is best successful when more causes are addressed, including mitochondrial dysfunction. As the case histories on the website demonstrate, addressing the mitochondrial component with specific therapy can be very powerful in some patients.

Dr. Boles believes that people who suffer from multiple or severe functional/dysautonomic disease should be investigated for energy depletion/mitochondrial dysfunction. Those testing positive should consider discussing mitochondrial-targeted therapies with their physician(s). These therapies can include special vitamins and other nutrients, frequent small meals, exercise in moderation, and other modalities. These therapies are not meant to replace standard therapy, but to augment them. For example, the treatment of cyclic vomiting syndrome is best accomplished by combining standard therapies (medication) with mitochondrial-targeted therapies (e.g. coenzyme Q10 and L-carnitine).

How to Use this Information

The information on this website is NOT intended to allow patients and families to diagnosis and/or treat themselves. This information is designed to provide patients and families with information to bring to the attention of their physician(s) for appropriate consideration and discussion.