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Disease Markers
Volume 22, Issue 4, Pages 213-225

Comprehensive Phenotyping in Multiple Sclerosis: Discovery Based Proteomics and the Current Understanding of Putative Biomarkers

Kevin C. O’Connor,1 Sushmita Mimi Roy,2 Christopher H. Becker,2 David A. Hafler,1 and Aaron B. Kantor2

1Department of Neurology and the Center for Neurologic Disease, Brigham and Women’s Hospital, Laboratory of Molecular Immunology, Department of Neurology, Harvard Medical School 77 Avenue Louis Pasteur, Boston, MA 02115, USA
2Biomarker Discovery Sciences, PDD, 1505 O’Brien Drive, Menlo Park, CA 94025, USA

Received 10 November 2006; Accepted 10 November 2006

Copyright © 2006 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.