Accomplishments to Date of the CHLA Laboratory of Dr. Boles

Our group has published several papers in scientific journals demonstrating that functional disorders are maternally inherited in many families. Our recent data demonstrate that in the mothers and maternal aunts of children with maternally inherited mitochondrial disorders, capsule 76% suffer from chronic fatigue syndrome, 72% from migraine, 52% from irritable bowel, 48% from depression and 36% from cyclic vomiting. In addition, 60% suffer from a chronic pain condition generally known as reflex sympathetic dystrophy. We have just recently found two genetic changes, 16519T and 3010A, in the mtDNA that are far more common in patients with common migraine as well as the functional disorder of cyclic vomiting syndrome. 16519T increases the odds for developing cyclic vomiting by over 600%. If the person has 3010A as well, the odds are an additional 1700% higher. In migraine headache, only 11% of patients without 16519T have migraine, but 74% with both genetic changes have migraine.

Chronic fatigue syndrome is a condition that affects up to 3% of the population, and is highly disabling to its sufferers. Its cause remains a mystery, and treatment is far from highly effective. Dr. Boles has found that 16519T doubles the chance of developing chronic fatigue syndrome. More importantly, chronic fatigue sufferers with 3010A are 4 to 6 times (4000% to 6000%) more likely to suffer from somatic (functional) symptoms than are sufferers with the more-common 3010G genetic code, including headache, muscle pain, weakness and sleep problems.

Additional data from the Boles laboratory and colleagues have demonstrated that these mitochondrial genetic changes also have a role in other functional conditions, including depression, irritable bowel syndrome, chronic regional pain syndrome (reflex sympathetic dystrophy) and sudden infant death syndrome (SIDS).

Since many of the children and relatives with the maternal inheritance of functional disease suffer in addition from autistic spectrum disorders, especially the boys, a preliminary study of the role of these genetic changes in autism has recently been completed by Dr. Boles. 16519T is associated with a two and a half times increased chance of having atypical autism (pervasive developmental disorder not otherwise specified), while 3010G more than tripled the odds. Furthermore, Dr. Boles performed mathematical computations of 1430 autism pedigrees banked by the NIH, which was highly suggestive that mtDNA plays an important role in the development of autistic spectrum disorders in general. These data support the previous link between autism and mitochondria/energy metabolism that has been established, and has recently become famous due to a case where the government conceded that a vaccination likely resulted in autism in a child with mitochondrial disease.