Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration

Abstract γ‐Secretases are a family of intramembrane cleaving aspartyl proteases and important drug targets in Alzheimer's disease. Here, we generated mice deficient for all γ‐secretases in the pyramidal neurons of the postnatal forebrain by deleting the three anterior pharynx defective 1 (Aph1)...

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Main Authors: Hermien Acx, Lutgarde Serneels, Enrico Radaelli, Serge Muyldermans, Cécile Vincke, Elise Pepermans, Ulrike Müller, Lucía Chávez‐Gutiérrez, Bart De Strooper
Format: Article
Language:English
Published: Springer Nature 2017-06-01
Series:EMBO Molecular Medicine
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Online Access:https://doi.org/10.15252/emmm.201707561
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author Hermien Acx
Lutgarde Serneels
Enrico Radaelli
Serge Muyldermans
Cécile Vincke
Elise Pepermans
Ulrike Müller
Lucía Chávez‐Gutiérrez
Bart De Strooper
author_facet Hermien Acx
Lutgarde Serneels
Enrico Radaelli
Serge Muyldermans
Cécile Vincke
Elise Pepermans
Ulrike Müller
Lucía Chávez‐Gutiérrez
Bart De Strooper
author_sort Hermien Acx
collection DOAJ
description Abstract γ‐Secretases are a family of intramembrane cleaving aspartyl proteases and important drug targets in Alzheimer's disease. Here, we generated mice deficient for all γ‐secretases in the pyramidal neurons of the postnatal forebrain by deleting the three anterior pharynx defective 1 (Aph1) subunits (Aph1abc cKO Cre+). The mice show progressive cortical atrophy, neuronal loss, and gliosis. Interestingly, this is associated with more than 10‐fold accumulation of membrane‐bound fragments of App, Aplp1, Nrg1, and Dcc, while other known substrates of γ‐secretase such as Aplp2, Lrp1, and Sdc3 accumulate to lesser extents. Despite numerous reports linking neurodegeneration to accumulation of membrane‐bound App fragments, deletion of App expression in the combined Aph1 knockout does not rescue this phenotype. Importantly, knockout of only Aph1a‐ or Aph1bc‐secretases causes limited and differential accumulation of substrates. This was not associated with neurodegeneration. Further development of selective Aph1‐γ‐secretase inhibitors should be considered for treatment of Alzheimer's disease.
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publishDate 2017-06-01
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spelling doaj-art-91f0316e230c40d1b68019d43f30295d2025-08-20T04:03:03ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842017-06-01981088109910.15252/emmm.201707561Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegenerationHermien Acx0Lutgarde Serneels1Enrico Radaelli2Serge Muyldermans3Cécile Vincke4Elise Pepermans5Ulrike Müller6Lucía Chávez‐Gutiérrez7Bart De Strooper8VIB Center for Brain and Disease ResearchVIB Center for Brain and Disease ResearchVIB Center for Brain and Disease ResearchCellular and Molecular Immunology, Vrije Universiteit BrusselCellular and Molecular Immunology, Vrije Universiteit BrusselVIB Center for Brain and Disease ResearchInstitute for Pharmacy and Molecular Biotechnology (IPMB), University of HeidelbergVIB Center for Brain and Disease ResearchVIB Center for Brain and Disease ResearchAbstract γ‐Secretases are a family of intramembrane cleaving aspartyl proteases and important drug targets in Alzheimer's disease. Here, we generated mice deficient for all γ‐secretases in the pyramidal neurons of the postnatal forebrain by deleting the three anterior pharynx defective 1 (Aph1) subunits (Aph1abc cKO Cre+). The mice show progressive cortical atrophy, neuronal loss, and gliosis. Interestingly, this is associated with more than 10‐fold accumulation of membrane‐bound fragments of App, Aplp1, Nrg1, and Dcc, while other known substrates of γ‐secretase such as Aplp2, Lrp1, and Sdc3 accumulate to lesser extents. Despite numerous reports linking neurodegeneration to accumulation of membrane‐bound App fragments, deletion of App expression in the combined Aph1 knockout does not rescue this phenotype. Importantly, knockout of only Aph1a‐ or Aph1bc‐secretases causes limited and differential accumulation of substrates. This was not associated with neurodegeneration. Further development of selective Aph1‐γ‐secretase inhibitors should be considered for treatment of Alzheimer's disease.https://doi.org/10.15252/emmm.201707561Alzheimer's diseaseAph1 subunitselective inhibitionside effectsγ‐Secretase
spellingShingle Hermien Acx
Lutgarde Serneels
Enrico Radaelli
Serge Muyldermans
Cécile Vincke
Elise Pepermans
Ulrike Müller
Lucía Chávez‐Gutiérrez
Bart De Strooper
Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration
EMBO Molecular Medicine
Alzheimer's disease
Aph1 subunit
selective inhibition
side effects
γ‐Secretase
title Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration
title_full Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration
title_fullStr Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration
title_full_unstemmed Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration
title_short Inactivation of γ‐secretases leads to accumulation of substrates and non‐Alzheimer neurodegeneration
title_sort inactivation of γ secretases leads to accumulation of substrates and non alzheimer neurodegeneration
topic Alzheimer's disease
Aph1 subunit
selective inhibition
side effects
γ‐Secretase
url https://doi.org/10.15252/emmm.201707561
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