Discovery of TLNRD1 protein could help better understand Cerebral Cavernous Malformations disease

Abo Akademi UniversityAug 23 2024

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, recently published in the Journal of Cell Biology, highlights how this protein helps maintain the integrity of blood vessels in the brain.

Key findings:

• The researchers discovered that TLNRD1 is a critical component of the CCM complex, a group of proteins essential for maintaining vascular stability. TLNRD1 interacts with the CCM2 protein, which is vital for the integrity of blood vessel walls. Disruption of this interaction leads to the vascular abnormalities seen in CCM disease.
• TLNRD1 helps regulate the formation of actin stress fibers and focal adhesions in endothelial cells, which are crucial for maintaining blood vessel barrier function. When TLNRD1 function is impaired, it can lead to weakened vessel walls and the formation of CCM l
• By understanding how TLNRD1 works within the CCM complex, scientists hope to develop new treatments that can enhance or mimic TLNRD1's stabilizing effects on blood vessels, potentially offering new therapies for patients with CCM disease.

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.