Wednesday, January 22, 2025

Team explores strategies for correcting mutations that cause stroke

HTRA1 interface mutants exhibit oligomeric assembly defects. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-49982-8 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, severe, and deadly genetic disorder characterized by damage to small blood vessels in the brain. The condition triggers strokes. It is caused by mutations that lead to a loss of function of the protease HTRA1. This enzyme plays an important role in maintaining equilibrium in the extracellular matrix. If its function is disrupted, it can no longer cleave and break down proteins, which eventually results in clinical manifestations. “There is no cure as yet Read More

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