Lack of Acid Sphingomyelinase Induces Age-Related Retinal Degeneration.

ABSTRACT:

Background

Mutations of acid sphingomyelinase (ASMase) cause Niemann-Pick diseases type A and B, which are fatal inherited lipid lysosomal storage diseases, characterized with visceral organ abnormalities and neurodegeneration. However, the effects of suppressing retinal ASMase expression are not understood. The goal of this study was to determine if the disruption of ASMase expression impacts the retinal structure and function in the mouse, and begin to investigate the mechanisms underlying these abnormalities.

Methods

Acid sphingomyelinase knockout (ASMase KO) mice were utilized to study the roles of this sphingolipid metabolizing enzyme in the retina. Electroretinogram and morphometric analysis were used to assess the retinal function and structure at various ages. Sphing

SUBMITTER: Wu BX 

PROVIDER: S-EPMC4500403 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature