GBA1 mutasyonu olan Parkinson hastalığı hastalarından beş beyin bölgesinin büyük ölçekli proteomik analizi

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AbstractDespite being the second most common neurodegenerative disorder, little is known about Parkinson’s disease (PD) pathogenesis. A number of genetic factors predispose towards PD, among them mutations inGBA1, which encodes the lysosomal enzyme acid-β-glucosidase. We now perform non-targeted, mass spectrometry based quantitative proteomics on five brain regions from PD patients with aGBA1mutation (PD-GBA) and compare to age- and sex-matched idiopathic PD patients and controls. Two proteins were differentially-expressed in all five brain regions whereas significant differences were detected between the brain regions, with changes consistent with loss of dopaminergic signaling in the substantia nigra, and activation of a number of pathways in the cingulate gyrus, including ceramide synthesis. Mitochondrial oxidative phosphorylation was inactivated to a larger extent in IPD samples in most brain regions compared to controls and to a larger extent in PD-GBA. This is the first large-scale proteomics dataset generated for the study of PD-GBA.

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