Unique molecular signature in mucolipidosis type IV microglia.

ABSTRACT:

Background

Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies. Depending on the affected metabolic pathway, LSD manifest with somatic or central nervous system (CNS) signs and symptoms. Neuroinflammation is a hallmark feature of LSD with CNS involvement such as mucolipidosis type IV, but not of others like Fabry disease.

Methods

We investigated the properties of microglia from LSD with and without major CNS involvement in 2-month-old mucolipidosis type IV (Mcoln1^-/-) and Fabry disease (Gla^y/-) mice, respectively, by using a combination of flow cytometric, RNA sequencing, biochemical, in vitro and immunofl

SUBMITTER: Cougnoux A 

PROVIDER: S-EPMC6935239 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature