Moyamoya disease is a progressive condition marked by narrowing of the brain’s major arteries and the formation of abnormal collateral vessels. Predominantly affecting children, it can lead to serious outcomes such as stroke or intracranial hemorrhage if not diagnosed early. Current diagnostic standards rely heavily on cerebral angiography—an invasive procedure with notable risks—or on less precise imaging methods such as MRI, which offer limited ability to monitor disease progression.
Led by Dr. Seung-ki Kim, a pediatric neurosurgeon at Seoul National University Hospital, in collaboration with Dr. Eun-jeong Ko of JLK Inc. and Dr. Seung-ah Choi from the Pediatric Cancer and Rare Disease Support Program, the team identified miR-512-3p in extracellular vesicles (EVs) found in the blood plasma of pediatric moyamoya patients. When comparing samples from 23 patients and 13 healthy children, the biomarker was significantly elevated in the patient group. The test demonstrated a strong diagnostic performance, with an area under the curve (AUC) of 0.82.
Beyond diagnostics, miR-512-3p may also serve as a therapeutic target. The study found that the biomarker suppresses the ARHGEF3 gene, which regulates angiogenesis—a key factor in the formation of moyamoya’s abnormal blood vessels. When miR-512-3p was inhibited in laboratory models, ARHGEF3 expression was restored, leading to a 2.3-fold increase in GTPase activity and a 1.7-fold improvement in the angiogenic function of endothelial colony-forming cells (ECFCs).
Additional experiments showed that treating moyamoya patient cells with a miR-512-3p inhibitor significantly enhanced vascular formation compared to cells treated with a negative control. This finding highlights the biomarker’s therapeutic promise.
“This study marks an important first step in proving that a blood test can diagnose moyamoya disease more quickly and accurately,” said Dr. Kim, lead researcher and pediatric neurosurgeon at SNU Hospital. “We hope this biomarker will provide real-world benefits for clinical diagnosis and treatment strategies in the future.”
The study, published in the July issue of Scientific Reports, was funded by the National Research Foundation of Korea, Seoul National University Hospital, and the Lee Kun-hee Pediatric Cancer and Rare Disease Initiative. The team has also obtained a domestic patent covering both diagnostic and therapeutic uses of miR-512-3p, paving the way for future commercialization.
This discovery may revolutionize the clinical management of moyamoya disease by enabling less invasive and more accessible diagnostics for children, alongside potential targeted treatments.
Lim Hye Jung, HEALTH IN NEWS TEAM
press@hinews.co.kr
