Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Τίτλος:	a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy
Δημιουργός/Συγγραφέας:	Moraitou, Marina [EL] Σωτηρούδης, Γιώργος[EN] Sotiroudis, Georgios Papagiannakis, Nikolaos Ferraz, Maria M J [EL] Ξενάκης, Αριστοτέλης[EN] Xenakis, Aristotelis Aerts, Johannes M F G Stefanis, Leonidas Michelakakis, Helen
Ημερομηνία:	2023
Γλώσσα:	Αγγλικά
ISSN:	1932-6203
DOI:	10.1371/journal.pone.0277602
Άλλο:	36735655
Περίληψη:	It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson's disease. A plethora of evidence suggests that disturbed α-Synuclein homeostasis is the link between Gaucher disease and Parkinson's disease. The pathogenic mechanism linking these entities is still a topic of debate and both gain- and loss-of-function theories have been put forward, which however are not mutually exclusive. In the present study we expanded our previous studies to include not only Gaucher disease patients but also Gaucher disease carriers and Gaucher disease patients following Enzyme Replacement Therapy. In these groups we investigated α-Synuclein in red blood cell membranes in association with lipid abnormalities described in Gaucher disease. These included glucosylceramide and its species, glucosylsphingosine, glucosylcholesterol and plasmalogens. Increased oligomerization of α-Synuclein in red blood cell membranes was observed not only in Gaucher disease patients but also in carriers of the disease. There were no qualitative differences in the lipids identified in the groups studied. However, significant quantitative differences compared to controls were observed in Gaucher disease patients but not in Gaucher disease carriers. Enzyme Replacement Therapy reversed the biochemical defects and normalized α-Synuclein homeostasis, providing for the first time evidence in human subjects that such homeostatic dysregulation is reversible. Further studies investigating α-Synuclein status during the differentiation of erythroid progenitors could provide new data on the pathogenic mechanism of α-Synuclein oligomerization in this system.
Τίτλος πηγής δημοσίευσης:	PloS one
Τόμος/Κεφάλαιο:	18
Τεύχος:	2
Θεματική Κατηγορία:	[EL] Φασματοσκοπία[EN] Spectroscopy [EL] Κυτταρολογία[EN] Cytology [EL] Βιοχημεία[EN] Biochemistry [EL] Θεραπευτική. Φαρμακολογία[EN] Therapeutics.Pharmacology
Λέξεις-Κλειδιά:	Humans alpha-Synuclein Enzyme Replacement Therapy Erythrocytes Glucosylceramidase Gaucher Disease Parkinson Disease
Κάτοχος πνευματικών δικαιωμάτων:	© 2023 Moraitou et al.
Όροι και προϋποθέσεις δικαιωμάτων:	This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Ηλεκτρονική διεύθυνση στον εκδότη (link):	https://doi.org/10.1371/journal.pone.0277602
Εμφανίζεται στις συλλογές:	Ινστιτούτο Χημικής Βιολογίας - Επιστημονικό έργο