Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.

ABSTRACT: Infantile Krabbe disease is a rapidly progressive and fatal disorder of myelin, caused by inherited deficiency of the lysosomal enzyme β-galactocerebrosidase. Affected children lose their motor skills and other faculties; uncontrolled seizures are a frequent terminal event. Overexpression of the sphingolipid metabolite psychosine is a pathogenic factor, but does not fully account for the pleiotropic manifestations and there is a clear need to investigate additional pathological mechanisms. We examined innate immunity, caspase-11 and associated inflammatory pathways in twitcher mice, an authentic model of Krabbe disease. Combined use of molecular tools, RNAscope in situ hybridization and immunohistochemical staining established that the expression of pro-inflammatory non-canonical caspase-1

SUBMITTER: Cachon-Gonzalez MB 

PROVIDER: S-EPMC10077509 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature