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Tytuł pozycji:

Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome.

Tytuł:
Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome.
Autorzy:
Pourtoy-Brasselet S; CECS/AFM, I-STEM, Corbeil-Essonnes 91100, France.
Sciauvaud A; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France.
Boza-Moran MG; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France.
Cailleret M; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France.
Jarrige M; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France; CECS/AFM, I-STEM, Corbeil-Essonnes 91100, France.
Polvèche H; CECS/AFM, I-STEM, Corbeil-Essonnes 91100, France.
Polentes J; CECS/AFM, I-STEM, Corbeil-Essonnes 91100, France.
Chevet E; INSERM U1242, Université Rennes 1, Rennes 35000, France; Centre de Lutte Contre le Cancer Eugène Marquis, Rennes 35000, France.
Martinat C; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France.
Peschanski M; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France; CECS/AFM, I-STEM, Corbeil-Essonnes 91100, France.
Aubry L; INSERM UMR 861, I-STEM, AFM, Corbeil-Essonnes 91100, France; Université Paris-Saclay, INSERM, Univ Evry, Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques, Corbeil-Essonnes 91100, France. Electronic address: .
Źródło:
American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2171-2185. Date of Electronic Publication: 2021 Oct 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
MeSH Terms:
Age of Onset*
Neurites*/drug effects
Induced Pluripotent Stem Cells/*cytology
Neurons/*cytology
Wolfram Syndrome/*pathology
CRISPR-Cas Systems ; Case-Control Studies ; Endoplasmic Reticulum Stress ; Gene Expression Regulation ; Humans ; Valproic Acid/pharmacology ; Wolfram Syndrome/genetics
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Contributed Indexing:
Keywords: Wolfram syndrome; axon guidance; endoplasmic reticulum stress; induced pluripotent stem cells; neurite outgrowth; neurodegenerative disease; neurodevelopmental disease; neurons
Substance Nomenclature:
614OI1Z5WI (Valproic Acid)
Entry Date(s):
Date Created: 20211026 Date Completed: 20211122 Latest Revision: 20220506
Update Code:
20240105
PubMed Central ID:
PMC8595949
DOI:
10.1016/j.ajhg.2021.10.001
PMID:
34699745
Czasopismo naukowe
Recent studies indicate that neurodegenerative processes that appear during childhood and adolescence in individuals with Wolfram syndrome (WS) occur in addition to early brain development alteration, which is clinically silent. Underlying pathological mechanisms are still unknown. We have used induced pluripotent stem cell-derived neural cells from individuals affected by WS in order to reveal their phenotypic and molecular correlates. We have observed that a subpopulation of Wolfram neurons displayed aberrant neurite outgrowth associated with altered expression of axon guidance genes. Selective inhibition of the ATF6α arm of the unfolded protein response prevented the altered phenotype, although acute endoplasmic reticulum stress response-which is activated in late Wolfram degenerative processes-was not detected. Among the drugs currently tried in individuals with WS, valproic acid was the one that prevented the pathological phenotypes. These results suggest that early defects in axon guidance may contribute to the loss of neurons in individuals with WS.
Competing Interests: Declaration of interests The authors declare no competing interests.
(Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

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