Proteomic profiling of sporadic late-onset nemaline myopathy.

ABSTRACT:

Objective

To define the proteomic profile of sporadic late-onset nemaline myopathy (SLONM) and explore its pathogenesis.

Methods

We performed mass spectrometry on laser-dissected frozen muscle samples from five patients with SLONM, three of whom with an associated monoclonal protein (MP), and four controls, to determine the proteomic profile of SLONM. Furthermore, we assessed the role of the MP by evaluating the expression of the immunoglobulin light chain variable regions (IGVL).

Results

There were 294 differentially expressed proteins: 272 upregulated and 22 downregulated. Among the top 100 upregulated proteins, the most common categories were: nuclear or nucleic acid metabolism (24%), extracellular matrix and basal lamina (17%), immune response (13%), and actin dyn

SUBMITTER: Naddaf E 

PROVIDER: S-EPMC8935314 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature