Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in <i>Pdcd10</i>-Depleted Mouse Endothelial Cells

Abstract

Cerebral cavernous malformations (CCM) are capillary malformations affecting the central nervous system and commonly present with headaches, epilepsy and stroke. Treatment of CCM is symptomatic, and its prevention is limited. CCM are often sporadic but sometimes may be multifocal and/or affect multiple family members. Heterozygous pathogenic variants in PDCD10 cause the rarest and apparently most severe genetic variant of familial CCM. We carried out an RNA-Seq and a Q-PCR validation analysis in Pdcd10-silenced and wild-type mouse endothelial cells in order to better elucidate CCM molecular pathogenesis. Ninety-four differentially expressed genes presented an FDR-corrected p-value PDCD10-related familial CCM to alterations in inflammation and pathogen recognition pathways.

Keywords

• <i>Pdcd10</i>
• cerebral cavernous malformation
• transcriptomic analysis
• hypoxia
• HIF-1signaling
• inflammation