Direct Mass Spectrometry-Based Detection and Antibody Sequencing of Monoclonal Gammopathy of Undetermined Significance from Patient Serum: A Case Study

J Proteome Res. 2023 Sep 1;22(9):3022-3028. doi: 10.1021/acs.jproteome.3c00330. Epub 2023 Jul 27.

Abstract

Monoclonal gammopathy of undetermined significance (MGUS) is a plasma cell disorder characterized by the presence of a predominant monoclonal antibody (i.e., M-protein) in serum, without clinical symptoms. Here we present a case study in which we detect MGUS by liquid-chromatography coupled with mass spectrometry (LC-MS) profiling of IgG1 in human serum. We detected a Fab-glycosylated M-protein and determined the full heavy and light chain sequences by bottom-up proteomics techniques using multiple proteases, further validated by top-down LC-MS. Moreover, the composition and location of the Fab-glycan could be determined in CDR1 of the heavy chain. The outlined approach adds to an expanding mass spectrometry-based toolkit to characterize monoclonal gammopathies such as MGUS and multiple myeloma, with fine molecular detail. The ability to detect monoclonal gammopathies and determine M-protein sequences straight from blood samples by mass spectrometry provides new opportunities to understand the molecular mechanisms of such diseases.

Keywords: M-protein; antibody; de novo sequencing; glycosylation; middle-down; monoclonal gammopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Immunoglobulin G
  • Mass Spectrometry
  • Monoclonal Gammopathy of Undetermined Significance* / diagnosis
  • Multiple Myeloma* / diagnosis
  • Multiple Myeloma* / genetics
  • Paraproteinemias* / diagnosis

Substances

  • Immunoglobulin G