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Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency.
- Source :
-
Electrophoresis [Electrophoresis] 2011 Aug; Vol. 32 (15), pp. 1970-5. Date of Electronic Publication: 2011 Jul 06. - Publication Year :
- 2011
-
Abstract
- S-Adenosylhomocysteine hydrolase (AHCY) deficiency is a rare congenital disorder in methionine metabolism clinically characterized by white matter atrophy, delayed myelination, slowly progressive myopathy, retarded psychomotor development and mildly active chronic hepatitis. In the present study, we utilized a comparative proteomics strategy based on 2-DE/MALDI-MS and LC/ESI-MS to analyze plasma proteins from three AHCY-deficient patients prior to and after receiving dietary treatment designed to alleviate disease symptoms. Obtained results revealed candidate biomarkers for the detection of myopathy specifically associated with AHCY deficiency, such as carbonic anhydrase 3, creatine kinase, and thrombospondin 4. Several proteins mediating T-cell activation and function were identified as well, including attractin and diacylglycerol kinase α. Further validation and functional analysis of identified proteins with clinical value would ensure that these biomarkers make their way into routine diagnosis and management of AHCY deficiency.<br /> (Copyright © 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.)
- Subjects :
- Adenosylhomocysteinase blood
Biomarkers blood
Biomarkers chemistry
Blood Proteins chemistry
Child
Child, Preschool
Chromatography, Liquid
Electrophoresis, Gel, Two-Dimensional
Humans
Infant
Male
Metabolism, Inborn Errors enzymology
Reproducibility of Results
Spectrometry, Mass, Electrospray Ionization
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Adenosylhomocysteinase deficiency
Blood Proteins analysis
Metabolism, Inborn Errors blood
Subjects
Details
- Language :
- English
- ISSN :
- 1522-2683
- Volume :
- 32
- Issue :
- 15
- Database :
- MEDLINE
- Journal :
- Electrophoresis
- Publication Type :
- Academic Journal
- Accession number :
- 21732553
- Full Text :
- https://doi.org/10.1002/elps.201000556