Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?

Synaptic dysfunction is an important cause of neurological symptoms in prion diseases, a class of clinically heterogeneous neurodegenerative disorders caused by misfolding of the cellular prion protein (PrPC). Experimental data suggest that accumulation of misfolded PrPC in the endoplasmic reticulum...

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Main Authors: Assunta Senatore, Elena Restelli, Roberto Chiesa
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:International Journal of Cell Biology
Online Access:http://dx.doi.org/10.1155/2013/543803
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author Assunta Senatore
Elena Restelli
Roberto Chiesa
author_facet Assunta Senatore
Elena Restelli
Roberto Chiesa
author_sort Assunta Senatore
collection DOAJ
description Synaptic dysfunction is an important cause of neurological symptoms in prion diseases, a class of clinically heterogeneous neurodegenerative disorders caused by misfolding of the cellular prion protein (PrPC). Experimental data suggest that accumulation of misfolded PrPC in the endoplasmic reticulum (ER) may be crucial in synaptic failure, possibly because of the activation of the translational repression pathway of the unfolded protein response. Here, we report that this pathway is not operative in mouse models of genetic prion disease, consistent with our previous observation that ER stress is not involved. Building on our recent finding that ER retention of mutant PrPC impairs the secretory trafficking of calcium channels essential for synaptic function, we propose a model of pathogenicity in which intracellular retention of misfolded PrPC results in loss of function or gain of toxicity of PrPC-interacting proteins. This neurotoxic modality may also explain the phenotypic heterogeneity of prion diseases.
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spelling doaj-art-a7aecc9c736d4601bca95f5c16c5bce52025-08-20T02:20:57ZengWileyInternational Journal of Cell Biology1687-88761687-88842013-01-01201310.1155/2013/543803543803Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?Assunta Senatore0Elena Restelli1Roberto Chiesa2Dulbecco Telethon Institute and Department of Neuroscience, IRCCS-Istituto di Ricerche Farmacologiche “Mario Negri,” Via G. La Masa 19, 20156 Milano, ItalyDulbecco Telethon Institute and Department of Neuroscience, IRCCS-Istituto di Ricerche Farmacologiche “Mario Negri,” Via G. La Masa 19, 20156 Milano, ItalyDulbecco Telethon Institute and Department of Neuroscience, IRCCS-Istituto di Ricerche Farmacologiche “Mario Negri,” Via G. La Masa 19, 20156 Milano, ItalySynaptic dysfunction is an important cause of neurological symptoms in prion diseases, a class of clinically heterogeneous neurodegenerative disorders caused by misfolding of the cellular prion protein (PrPC). Experimental data suggest that accumulation of misfolded PrPC in the endoplasmic reticulum (ER) may be crucial in synaptic failure, possibly because of the activation of the translational repression pathway of the unfolded protein response. Here, we report that this pathway is not operative in mouse models of genetic prion disease, consistent with our previous observation that ER stress is not involved. Building on our recent finding that ER retention of mutant PrPC impairs the secretory trafficking of calcium channels essential for synaptic function, we propose a model of pathogenicity in which intracellular retention of misfolded PrPC results in loss of function or gain of toxicity of PrPC-interacting proteins. This neurotoxic modality may also explain the phenotypic heterogeneity of prion diseases.http://dx.doi.org/10.1155/2013/543803
spellingShingle Assunta Senatore
Elena Restelli
Roberto Chiesa
Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?
International Journal of Cell Biology
title Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?
title_full Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?
title_fullStr Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?
title_full_unstemmed Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?
title_short Synaptic Dysfunction in Prion Diseases: A Trafficking Problem?
title_sort synaptic dysfunction in prion diseases a trafficking problem
url http://dx.doi.org/10.1155/2013/543803
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