A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients

Neuromuscul Disord. 2015 Jan;25(1):32-42. doi: 10.1016/j.nmd.2014.09.005. Epub 2014 Sep 16.

Abstract

We generated a novel monoclonal antibody, DAG-6F4, against alpha-dystroglycan which immunolabels the sarcolemma in human muscle biopsies. Its seven amino-acid epitope, PNQRPEL, was identified using phage-displayed peptides and is located immediately after the highly-glycosylated mucin domain of alpha-dystroglycan. On Western blots of recombinant alpha-dystroglycan, epitope accessibility was reduced, but not entirely prevented, by glycosylation. DAG-6F4 immunolabelling was markedly reduced in muscle biopsies from Duchenne muscular dystrophy patients consistent with disruption of the dystroglycan complex. In a range of dystroglycanopathy patients with reduced/altered glycosylation, staining by DAG-6F4 was often less reduced than staining by IIH6 (antibody against the glycan epitope added by LARGE and commonly used to identify glycosylated alpha-dystroglycan). Whereas IIH6 was reduced in all patients, DAG-6F4 was hardly changed in a LARGE patient, less reduced than IIH6 in limb-girdle muscular dystrophy type 2I, but as reduced as IIH6 in some congenital muscular dystrophy patients. Although absence of the LARGE-dependent laminin-binding site appears not to affect alpha-dystroglycan stability at the sarcolemma, the results suggest that further reduction in aDG glycosylation may reduce its stability. These studies suggest that DAG-6F4 may be a useful addition to the antibody repertoire for evaluating the dystroglycan complex in neuromuscular disorders.

Keywords: Alpha-dystroglycan; Beta-dystroglycan; Congenital muscular dystrophy; DAG-6F4; Dystroglycanopathy; Dystrophin; Epitope mapping; Fukutin-related protein; Limb-girdle muscular dystrophy; Monoclonal antibody; Phage-displayed peptides; glycosylation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Animals
  • Antibodies, Monoclonal / immunology*
  • Child, Preschool
  • Dystroglycans / analysis*
  • Dystroglycans / metabolism
  • Glycosylation
  • HEK293 Cells
  • Humans
  • Immunohistochemistry
  • Infant
  • Membrane Proteins / immunology
  • Mice
  • Mice, Inbred BALB C
  • Molecular Sequence Data
  • Muscle, Skeletal / immunology
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / pathology*
  • Sarcolemma / immunology

Substances

  • Antibodies, Monoclonal
  • DAG-6F4 monoclonal antibody
  • Membrane Proteins
  • Dystroglycans