Abstract Details

Title Proof of Principle Study: Diagnosing MS by Analyzing the CSF Cell Transcriptome

Topic MS and Related Diseases

Presentation(s) P03 - (-)

Poster/Presentation
Number 231

Objective

Background BACKGROUND: Direct investigation of viable cells from multiple sclerosis CNS lesions is difficult because MS lesions are rarely biopsied. However, cells in the cerebrospinal fluid (CSF) are likely to have interacted with or have derived from inflammatory CNS lesions. Thus these cells are of interest because they are representative of disease activity. To identify potential disease biomarkers we are studying the gene expression profile of CSF cells.

Design/Methods DESIGN/METHODS: CSF was collected with IRB approval and informed consent. CSF was obtained with sterile technique either by standard lumbar puncture or an access port aspiration of implanted pumps. RNA was isolated from pelleted CSF cells using the RNeasy Micro Kit (Qiagen). RNA processing and microarray hybridization were performed by the Centre of Excellence for Fluorescent Bioanalytics (KFB, Regensburg, Germany). The RNA quality has been analyzed using a RNA 6000 Pico Assay (Agilent Technologies). The OvationTM RNA Amplification System V2 was used for the generation of single-stranded cDNA and the FL-OvationTM cDNA Biotin Module V2 for the labeling and fragmentation of the single-stranded cDNA (NuGEN Technologies). The labeled targets were hybridized to Human Genome 133 plus 2.0 arrays (Affymetrix).

Results RESULTS: Diagnosis of MS is made well after initiation of the disease process, because it is based on the detection of plaques and clinically evident neurological dysfunction. Early diagnosis of MS is critical because it would allow for therapeutic interventions prior to the development of disability. We identified a gene subset whose CSF cell expression levels in MS are highly specific (93%) and have 100% sensitivity, suggesting that further study may yield diagnostic applicability.

Conclusions CONCLUSIONS: The analysis of the transcriptome of cells derived from cerebrospinal fluid samples provides meaningful findings which may lead to the discovery of new MS biomarkers.

Authors/Disclosures
Bo Hyung Yoon PRESENTER	No disclosure on file
Andre M. Mueller, PhD (MSRCNY)	No disclosure on file
Eva Franzova, MD (New York Presbyterian Hospital, Columbia)	Dr. Franzova has nothing to disclose.
Saud Sadiq, BS, FAAN (Tisch Multiple Sclerosis Research Center of New York)	Ms. Brewi has nothing to disclose.
Krai Chatamra, PhD (InTrance Medical Systems)	No disclosure on file

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