作者: Katharina Dannhausen , Marcus Karlstetter , Albert Caramoy , Cornelia Volz , Herbert Jägle
DOI: 10.1016/J.BBRC.2015.06.133
关键词:
摘要: Mutations in the acid sphingomyelinase (aSMase) coding gene sphingomyelin phosphodiesterase 1 (SMPD1) cause Niemann-Pick disease (NPD) type A and B. Sphingomyelin storage cells of mononuclear phagocyte system hepatosplenomegaly severe neurodegeneration brain NPD patients. However, effects aSMase deficiency on retinal structure microglial behavior have not been addressed detail yet. Here, we demonstrate that retinas aSMase(-/-) mice did display overt neuronal degeneration but showed significantly reduced scotopic photopic responses electroretinography. In vivo fundus imaging many hyperreflective spots staining for microglia marker Iba1 revealed massive proliferation had enlarged somata. Nile red detected prominent phospholipid inclusions lipid analysis increased levels mice. conclusion, aSMase-deficient mouse is first example which are directly related to a loss function.