Journal
AMYOTROPHIC LATERAL SCLEROSIS
Volume 9, Issue 6, Pages 339-349Publisher
INFORMA HEALTHCARE
DOI: 10.1080/17482960801934239
Keywords
Amyotrophic lateral sclerosis; plasma; two-dimensional electrophoresis; mass spectrometry; biomarkers
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Funding
- Fundacaco para a Ciencia e a Tecnologia (FCT), Portuga [POCTI/CBO/43952/2002]
- European Commission [LSHG-CT2004-503228]
- FCT, Portugal
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In ALS, the identification of abnormal proteins in biological fluids might be useful for the understanding of the ethiopathogenesis of the disease. Furthermore, it can provide biomarkers useful for diagnosis, to monitor disease progression and to study the effect of drugs. Plasma is a suitable fluid for screening such targets since blood collection is a relatively simple procedure. In this study, proteomic techniques consisting of two-dimensional gel electrophoresis and matrix-assisted laser desorption time-of-flight mass spectrometry (MALDI-TOF MS) have been used for the analysis of plasma from a group of Portuguese familial ALS (FALS) patients not carrying SOD1 mutations, age-matched healthy controls, sporadic ALS patients and controls with other muscular disorders. Most relevant was the finding in the FALS patients of an isoform of vitamin D-binding protein (DBP) at pI 5.2, identified as GC2 by liquid chromatography electrospray ionization-TOF MS. GC2 was absent from the healthy controls. Concomitantly, decrease of more acidic isoforms of DBP was observed for the FALS patients. The results suggested that the GC2 polymorphism of DBP could constitute a risk factor for ALS.
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