Cerebrospinal Fluid Biomarker Study


Mu Wang, PhD (Indiana); Howard M. Lederman, MD PhD (Johns Hopkins)


Indiana University School of Medicine (proteomics analysis); A-T Clinical Center, Johns Hopkins Hospital (cerebrospinal fluid collection)


To identify markers within patient cerebrospinal fluid (CSF) which represent signs of disease or disease progression and which can be monitored to determine drug effectiveness in a clinical trial.


Among the 204 identified CSF proteins in this study, 13 showed significant changes in A-T patients versus control samples. These 13 proteins are either involved in neurodegenerative disorders or cancer. Further study of these proteins could provide insights into their use as potential therapeutic targets for the treatment of A-T and their potential as biomarkers that can be used to monitor or predict A-T disease progression. CSF may not be ideal due to the invasiveness involved in sample collection. Therefore, future studies involving blood samples would make this biomarker discovery strategy even more attractive, with the hope that such noninvasive biospecimens can be incorporated into routine clinical practice and utilized in clinical trials for the assessment of potential therapeutic compounds.


Dzieciatkowska, M., Qi, G., You, J., Bemis, K.G., Sahm, H., Lederman, H.M., Crawford, T.O., Gelbert, L.M., Rothblum-Oviatt, C., and Wang, M. (2011). Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology. Int J Proteomics 2011, 578903.

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