Defects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease.

ABSTRACT:

Background

Niemann-Pick disease type A (NPDA), a disease caused by mutations in acid sphingomyelinase (ASM), involves severe neurodegeneration and early death. Intracellular lipid accumulation and plasma membrane alterations are implicated in the pathology. ASM is also linked to the mechanism of plasma membrane repair, so we investigated the impact of ASM deficiency in skeletal muscle, a tissue that undergoes frequent cycles of injury and repair in vivo.

Methods

Utilizing the NPDA/B mouse model ASM^-/- and wild type (WT) littermates, we performed excitation-contraction coupling/Ca²⁺ mobilization and sarcolemma injury/repair assays with isolated flexor digitorum brevis fibers, proteomic analyses with quadriceps femoris, flexor digitorum brevis, and tibial

SUBMITTER: Michailowsky V 

PROVIDER: S-EPMC6320626 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature