Somatic mutations in angiogenesis-related pathways and RNA polymerase II activity in sporadic brain arteriovenous malformations
This study proposes a novel hypothesis implicating RNA Polymerase II-mediated transcription in the aberrant angiogenesis of bAVMs. While KRAS mutations were detected at low frequency and allele burden, other genetic alterations in DNA repair and transcriptional machinery may drive or sustain vascular instability. Further functional validation is warranted to clarify their pathogenic role and therapeutic potential.
Authors
- Pedro Pérez‐Segura (ORCID: https://orcid.org/0000-0001-5049-7199)
- Rebeca Pérez‐Alfayate (ORCID: https://orcid.org/0000-0002-2594-1988)
- Isabel Casado‐Fariñas (ORCID: https://orcid.org/0000-0002-0822-1778)
- Santiago Cabezas‐Camarero (ORCID: https://orcid.org/0000-0003-2298-8577)
- Vanesa García‐Barberán (ORCID: https://orcid.org/0000-0002-2531-0203)
- Juan Pablo Castaño‐Montoya
- María Elena Gómez del Pulgar
- Desiré Hernández-Martínez
Institutions
- Hospital Clínico San Carlos (ES)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-09-26
- DOI
- https://doi.org/10.3389/fneur.2025.1660604
- Primary Topic
- Vascular Malformations Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00