title: Collagen Q--a potential target for autoantibodies in myasthenia gravis.
abstract: Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies targeting proteins expressed at the neuromuscular junction (NMJ). In most cases the targets are acetylcholine receptor (AChR), muscle-specific tyrosine kinase (MuSK), or occasionally low-density lipoprotein receptor-related protein 4 (LRP4), but there is still a group of patients, often called seronegative MG (SNMG), with unknown antibody targets. One potential target is collagen Q (COLQ), which is restricted to the NMJ and is crucial for anchoring the NMJ-specific form of acetylcholinesterase (AChE). 415 serum samples with a clinical diagnosis of MG and 43 control samples were screened for the presence of COLQ autoantibodies using a cell-based assay (CBA) with HEK293 cells overexpressing COLQ at the cell surface. COLQ antibodies were detected in 12/415 MG sera and in one/43 control samples. Five of the COLQ-Ab+individuals were also positive for AChR-Abs and 2 for MuSK-Abs. Although the COLQ antibodies were only present at low frequency, and did not differ significantly from the small control cohort, further studies could address whether they modify the clinical presentation or the benefits of anti-cholinesterase therapy.
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK.
authors.forename: Marta
authors.initials: M
authors.lastname: Zoltowska Katarzyna
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK.
authors.forename: Katsiaryna
authors.initials: K
authors.lastname: Belaya
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Leite
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK.
authors.forename: Waters
authors.initials: W
authors.lastname: Patrick
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK.
authors.forename: Angela
authors.initials: A
authors.lastname: Vincent
authors.affiliation: Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, Neurosciences Group, OX3 9DS, Oxford, UK. Electronic address: david.beeson@ndcn.ox.ac.uk.
authors.forename: David
authors.initials: D
authors.lastname: Beeson
mesh_terms: D000110:Acetylcholinesterase / Q000276:immunology*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000097:blood*; D001681:Biological Assay; D002648:Child; D003094:Collagen / Q000276:immunology*; D005260:Female; D057809:HEK293 Cells; D006801:Humans; D008875:Middle Aged; D009124:Muscle Proteins / Q000276:immunology*; D009157:Myasthenia Gravis / Q000276:immunology*; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D009124:Muscle Proteins; D003094:Collagen; D000110:Acetylcholinesterase; C114027:COLQ protein, human
keywords: Autoantibodies; Cell-based assay (CBA); Collagen Q (COLQ); Myasthenia gravis (MG); Neuroimmunology; Neuromuscular junction (NMJ)