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Clinical Chemistry 51: 2031-2042, 2005. First published September 9, 2005; 10.1373/clinchem.2005.055053
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(Clinical Chemistry. 2005;51:2031-2042.)
© 2005 American Association for Clinical Chemistry, Inc.

Proteomics and Protein Markers

Decreased Asialotransferrin in Cerebrospinal Fluid of Patients with Childhood-Onset Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease

Adeline Vanderver1, Raphael Schiffmann2, Margaret Timmons2, Katherine A. Kellersberger3, Dan Fabris3, Eric P. Hoffman1, Jelena Maletkovic1 and Yetrib Hathout1,a

1 Children’s National Medical Center, Children’s Research Institute, Center for Genetic Medicine, Washington, DC.
2 Developmental and Metabolic Neurology Branch (DMNB), National Institute of Neurologic Disorders and Stroke (NINDS)/National Institutes of Health (NIH), Bethesda, MD.
3 University of Maryland Baltimore County, Department of Chemistry and Biochemistry, Baltimore, MD.

aAddress correspondence to this author at: Children’s National Medical Center, Children’s Research Institute, Center for Genetic Medicine, 111 Michigan Ave, NW, Washington, DC 20010. Fax 202-884-6014; e-mail yhathout{at}cnmcresearch.org.

Background: A biomarker for the diagnosis of childhood-onset ataxia and central nervous system hypomyelination (CACH)/vanishing white matter disease (VWM) would have clinical utility and pathophysiologic significance.

Methods: We used 2-dimensional gel electrophoresis/mass spectrometry to compare the cerebrospinal fluid proteome of patients with mutation-confirmed CACH/VWM with that of unaffected controls. We characterized selected spots by in-gel digestion, matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometry, and nanospray Fourier transform mass spectrometry.

Results: A specific transferrin spot pattern was detected in the CSF samples of the CACH/VWM group (n = 7), distinguishing them from the control group (n = 23) and revealing that patients with CACH/VWM have a deficiency of the asialo form of transferrin usually present in healthy cerebrospinal fluid. The glycopeptide structure, determined from isolated transferrin spots by use of in-gel digestion and extraction, was found to be consistent with earlier reports.

Conclusions: The transferrin isoform abnormality in the cerebrospinal fluid of patients with CACH/VWM appears unique and is a potential clinical diagnostic biomarker. The rapid, efficient diagnosis of this disorder would have a significant impact on clinical studies exploring new strategies for the management and treatment of this disease.




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