Peptidomics and proteomics studies of transformed lymphocytes from patients mutated for the eukaryotic initiation...

Mutations in the ubiquitous factor eIF2B involved in protein synthesis and its regulation have been reported in human brain genetic disorders. In order to analyse the functional consequences of the mutations and to find specific biomarkers of eIF2B-related disorders, proteomics and peptidomics studies were performed on lymphoblasts from eIF2B-mutated patients versus healthy patients. Curiously, following two-dimensional gel electrophoresis and mass fingerprints, mutations in the eIF2B complex did not significantly affect the proteome of the mutated lymphoblasts extracts. However, liquid chromatography based peptidomics studies revealed one apparently instable candidate compound in five out of the six mutated lymphoblastoid cell lines investigated.