We identified a unique antibody gene mutation pattern (i.e. "signature") in cerebrospinal fluid (CSF) B cells from multiple sclerosis (MS) patients not present in control populations. Prevalence of the signature in CSF B cells of patients at risk to develop MS predicted conversion to MS with 91% accuracy in a small cohort of clinically isolated syndrome patients. If confirmed, signature prevalence would be a novel genetic diagnostic tool candidate for patients with early demyelinating disease of the central nervous system.
Bibliographical noteFunding Information:
This study was supported by grants from the National Institutes of Health (NIH) to NLM (RO1 NS 40993) and MKR (RO1 NS 37513, RO1 AI 47133, and K24 NS 44250), the National Multiple Sclerosis Society (NMSS) to NLM (RG3267) and JLB (RG3908), the Yellow Rose Foundation (NLM and MKR), the Wadsworth Foundation (to NLM) and Howson funds (to NLM). EMC and CH were supported by NIH NRSA5 T32 AI 005284-28 from NIAID. The authors have no conflicting financial interests.
Copyright 2009 Elsevier B.V., All rights reserved.
- B lymphocytes
- Gene rearrangement
- Multiple sclerosis
- Mutational signature