Researchers from Seoul National University Hospital (SNUH) said Monday they have become the first to discover that abnormal mitochondria are associated with a rare, progressive cerebrovascular disease called Moyamoya disease.
|Normal mitochondria (left) and abnormal mitochondria in children with Moyamoya disease|
Moyamoya disease occurs from a blockage of arteries in the base of a brain area called the basal ganglia. The word “Moyamoya,” which translates into “puff of smoke” in Japanese, describes the tangle of tiny vessels that form to compensate for the blockage, according to the National Institute of Neurological Disorders and Stroke.
The condition, which occurs in about 100 Koreans each year, has previously had no known cause, making its detection and treatment difficult. Symptoms usually first appear with an ischemic stroke, hemorrhagic stroke, or mini-stroke.
According to SNUH, the research findings now allow doctors to diagnose the disease by checking an individual’s mitochondria functions.
|Professor Kim Seung-ki|
The team led by SNU Children Hospital’s Professor Kim Seung-ki analyzed the mitochondria of 10 children – five of whom had Moyamoya disease and five who did not – after separating and cultivating endothelial colony-forming cells (ECFCs) from peripheral blood.
An abnormal ECFC function has been known to be a significant cause of Moyamoya disease, SNUH said.
Study results showed children with Moyamoya disease had a strange mitochondrial shape, as well as abnormal ECFC functions based on severely reduced oxygen consumption rates (OCRs). The ECFCs from Moyamoya patients also displayed increased reactive oxygen species (ROS) levels, research showed.
Researchers also found that injecting reactive oxygen species (ROS) scavengers into ECFCs of patients with Moyamoya disease normalized the shape of the mitochondria, and restored the angiogenic activity of ECFCs.
"This study suggests a new perspective on the cause of Moyamoya disease,” said Professor Kim, the pediatric neurosurgeon who led the study. “We expect to lay the foundation for the development of drugs for the disease by revealing the importance of the role of active oxygen and the antioxidants that respond to the active oxygen.”
Based on this research, the team developed a domestically patented diagnostic tool that can quickly diagnose the disease, SNUH said.
Currently, surgery is the only treatment for no existing drug blocks disease progression. SNU Children’s Hospital was the first medical institution in the world to perform more than 1,000 surgeries for children with Moyamoya disease last January, it said. Prompt diagnosis and operation allow for normal daily life without neurological symptoms or deficits in more than 80 percent of cases.
The study, supported by a rare disease mediation center designated by the Ministry of Health and Welfare called Research Coordination Center for Rare Diseases, was published in the Journal of Neurosurgery.
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