Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

ABSTRACT:

Objective

Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature. We propose to identify proteins that accumulate within RVs.

Methods

RVs and intact myofibers were laser microdissected from skeletal muscle of 18 sIBM patients and analyzed by a sensitive mass spectrometry approach using label-free spectral count-based relative protein quantification. Whole exome sequencing was performed on 62 sIBM patients. Immunofluorescence was performed on patient and mouse skeletal muscle.

Results

A total of 213 proteins were enriched by >1.5 -fold in RVs compared to controls and included proteins previously reported to accumulate in sIBM tissue or when mutated cause myopathies with RVs. Proteins associated with protei

SUBMITTER: Guttsches AK 

PROVIDER: S-EPMC5323275 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature