title: Comprehensive phenotyping in multiple sclerosis: discovery based proteomics and the current understanding of putative biomarkers.
abstract: Currently, there is no single test for multiple sclerosis (MS). Diagnosis is confirmed through clinical evaluation, abnormalities revealed by magnetic resonance imaging (MRI), and analysis of cerebrospinal fluid (CSF) chemistry. The early and accurate diagnosis of the disease, monitoring of progression, and gauging of therapeutic intervention are important but elusive elements of patient care. Moreover, a deeper understanding of the disease pathology is needed, including discovery of accurate biomarkers for MS. Herein we review putative biomarkers of MS relating to neurodegeneration and contributions to neuropathology, with particular focus on autoimmunity. In addition, novel assessments of biomarkers not driven by hypotheses are discussed, featuring our application of advanced proteomics and metabolomics for comprehensive phenotyping of CSF and blood. This strategy allows comparison of component expression levels in CSF and serum between MS and control groups. Examination of these preliminary data suggests that several CSF proteins in MS are differentially expressed, and thus, represent putative biomarkers deserving of further evaluation.
authors.affiliation: Department of Neurology and the Center for Neurologic Disease, Brigham and Women's Hospital, Laboratory of Molecular Immunology, Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. koconnor@rics.bwh.harvard.edu
authors.forename: Kevin C
authors.initials: KC
authors.lastname: O'Connor
authors.forename: Sushmita Mimi
authors.initials: SM
authors.lastname: Roy
authors.forename: Christopher H
authors.initials: CH
authors.lastname: Becker
authors.forename: David A
authors.initials: DA
authors.lastname: Hafler
authors.forename: Aaron B
authors.initials: AB
authors.lastname: Kantor
mesh_terms: D001323:Autoantibodies / Q000097:blood; D015415:Biomarkers; D006801:Humans; D007249:Inflammation / Q000175:diagnosis; D009103:Multiple Sclerosis / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000276:immunology; D019636:Neurodegenerative Diseases / Q000175:diagnosis; D010641:Phenotype; D040901:Proteomics
chemical_list: D001323:Autoantibodies; D015415:Biomarkers