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Transcript:
New research from the Brain Vascular Malformation Consortium (BVMC), a research group of the Rare Diseases Clinical Research Network.
Comparing Circulating microRNAs in Neurovascular Disorders.
This summary is based on a paper published in the journal Biochemistry and Biophysics Reports on August 2, 2025.
Familial cerebral cavernous malformations (FCCM), Sturge-Weber syndrome (SWS), and hereditary hemorrhagic telangiectasia (HHT) are neurovascular disorders caused by genetic mutations that can lead to brain bleeding. Cerebral microbleeds (CMBs) are another type of neurovascular disorder that causes brain bleeding. However, CMBs are more often associated with the aging process than genetic factors.
In this study, researchers compared circulating microRNAs in these four neurovascular disorders. First, the team identified differentially expressed plasma microRNAs from patients with FCCM, SWS, HHT, and CMB. Next, they used analysis techniques to identify gene targets of the differentially expressed microRNAs and their associated pathways.
Results revealed both similarities and differences in microRNAs. Among all four disorders, dysregulated microRNAs targeted the PI3K-Akt and ROBO SLIT signaling pathways. Authors note that these findings reveal shared mechanistic pathways underlying vascular dysmorphism and bleeding, highlighting their potential use for disease monitoring and therapeutic intervention.
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