New alterations of the platelet proteome in type I Glanzmann thrombasthenia

The project contains raw and result files of a proteomics analysis of two patients with type 1 Glanzmann thrombasthenia (Patient1 and 2) caused by homozygous ITGA2b delG mutations and from family (heterozygous: Father1, Mother1, Sister1, healthy: Sister2) and unrelated controls. A label-free analysis has been conducted in duplicates using Progenesis (NonLinear Dynamics) demonstrating that less than 5% of glycoprotein IIb and 5-7% fibrinogen is expressed compared to healthy controls. Heterozygous familiy members from one of the controls expressed 50-60% of GPIIb sufficient for normal GPIIb/IIIa-dependant platelet function. In a subsequent targeted LC-MS/MS analysis we quantified 14 protein identified as potentially regulated in preliminary iTRAQ experiments. We observed diminished expession of factor XIIIB chain (P05160), plasminogen (P00747) and carboxypeptidase 2B (Q96IY4) in thrombasthenic platelets as well as a 2.5-fold increased expression of FcgRIIA (P12318/P31995) and laminin alpha4 (Q16363).