Moyamoya disease, characterized by the progressive narrowing of major cerebral arteries and the formation of abnormal collateral blood vessels, primarily affects children. It can lead to severe complications such as stroke or brain hemorrhage if not detected early. Until now, diagnosis has depended on invasive tests like angiography, which carry significant risks, or less accurate non-invasive methods like MRI, which struggle to assess disease progression.
The study, led by Dr. Seung-Ki Kim, a pediatric neurosurgeon at Seoul National University Hospital, alongside Dr. Eun-Jeong Ko of JLK Inc. and Dr. Seung-Ah Choi of the Pediatric Cancer and Rare Disease Support Program, identified miR-512-3p in extracellular vesicles (EVs) within the blood plasma of pediatric moyamoya patients. Comparing blood samples from 23 patients with 13 healthy controls, the team found significantly elevated levels of miR-512-3p in the patient group, with a diagnostic accuracy (AUC) of 0.82, indicating strong potential as a blood-based diagnostic tool.
Further experiments demonstrated that treating moyamoya patient cells with a miR-512-3p inhibitor significantly improved vascular formation compared to a negative control inhibitor group, underscoring the biomarker’s therapeutic potential.
“This study marks an important first step in proving that a blood test can diagnose moyamoya disease more quickly and accurately,” said Dr. Kim. “We hope this biomarker will provide real-world benefits for clinical diagnosis and treatment strategies in the future.”
Funded by the National Research Foundation of Korea, Seoul National University Hospital’s research fund, and the Lee Kun-hee Pediatric Cancer and Rare Disease Initiative, the study was published in the July issue of Scientific Reports. The team has also secured a domestic patent for the diagnostic and therapeutic applications of miR-512-3p, raising prospects for future commercialization.
This advance could transform the management of moyamoya disease, offering a less invasive, more accessible diagnostic option for children and paving the way for targeted therapies.
Lim Hye Jung, HEALTH IN NEWS TEAM
press@hinews.co.kr
