LAUSR

Cerebral cavernous malformations (CCM) is a familial or sporadic rare disorder that is characterized by capillary vascular lesions with a mulberry-like appearance on MRI scans. Three distinct genes have been associated to CCM disease, known as CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Loss-of-functions mutations on these genes lead to deregulation in multiple signaling pathways, thereby resulting in disturbed vessel organization and function. Insufficient autophagy has been observed upon downregulation of all three CCM genes, both in cells and human patient tissues, revealed as aberrant accumulation of the autophagy receptor p62/SQSTM1. The autophagic process is conceived as an adaptive response to stress and is essential for the maintenance of cellular homeostasis. The aim of this review is to briefly summarize the current knowledge on the role of autophagy in CCM disease and to furnish a detailed protocol for detecting and measuring p62/SQSTM1 cytoplasmic aggregates through immunofluorescence technique.