Single-cell sequencing reveals that endothelial cells, EndMT cells and mural cells contribute to the pathogenesis of cavernous malformations

Abstract

Central nervous system: Understanding what causes cavernous malformations Sequencing all the RNA in single cells has provided clues to the development of cavernous malformations (CMs), small clusters of thin-walled misshapen blood vessels in the brain or nervous system. CMs can result in hemorrhage or neurological symptoms, and their causes are poorly understood. A team led by Yibo Wang at Peking Union Medical College and Hongqi Zhang and Tao Hong at Capital Medical University in Beijing, China, sequenced all the RNA in over 100,000 single cells from samples from CM patients and healthy controls, allowing them to identify molecular events that can lead to CMs. They demonstrated how the gene expression landscape is altered, especially in ECs, EndMT cells and mural cells. These results provide a strategy for investigating the genetic and molecular causes of CMs, and may help in identifying new therapies.