Researchers have discovered a crucial protein, TLNRD1, that could help us better understand and treat cerebral cavernous malformations (CCM) disease. This condition causes blood-filled lesions in the brain, leading to seizures, neurological problems, and, in severe cases, strokes. A team of scientists from Åbo Akademi University and the University of Liverpool found that a previously poorly characterized protein, TLNRD1 is an integral part of a complex of proteins essential for keeping blood vessels stable.
Their study, published in the Journal of Cell Biology , highlights how this protein helps maintain the integrity of blood vessels in the brain. Key findings: This study represents a significant step forward in understanding CCM disease, identifying a new component of the CCM complex. It showcases the potential for targeted molecular therapies to improve patient outcomes.
The researchers are optimistic that their work will inspire further investigations and innovations in vascular biology and neurovascular disorders. "By uncovering the role of TLNRD1 in the CCM complex, we have identified a new target for therapeutic intervention in CCM disease. 75% of familial CCM cases are caused by mutations in the three known CCM genes, and we are currently exploring the idea that TLNRD1 mutations might link to CCM disease .
This discovery advances our understanding of vascular biology and offers hope for developing effective treatments," said Guillaume Jacquemet, one of the lead researchers. More information: Neil J. Ball et al, TLNRD1 is a CCM complex component and regulates endothelial barrier integrity, Journal of Cell Biology (2024).
DOI: 10.1083/jcb.202310030.
