Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment.


Journal

Neuropathology and applied neurobiology
ISSN: 1365-2990
Titre abrégé: Neuropathol Appl Neurobiol
Pays: England
ID NLM: 7609829

Informations de publication

Date de publication:
06 2021
Historique:
revised: 26 10 2020
received: 21 08 2020
accepted: 13 12 2020
pubmed: 18 12 2020
medline: 23 2 2022
entrez: 17 12 2020
Statut: ppublish

Résumé

Peroxisomes play a key role in lipid metabolism, and peroxisome defects have been associated with neurodegenerative diseases such as X-adrenoleukodystrophy and Alzheimer's disease. This study aims to elucidate the contribution of peroxisomes in lipid alterations of area 8 of the frontal cortex in the spectrum of TDP43-proteinopathies. Cases of frontotemporal lobar degeneration-TDP43 (FTLD-TDP), manifested as sporadic (sFTLD-TDP) or linked to mutations in various genes including expansions of the non-coding region of C9ORF72 (c9FTLD), and of sporadic amyotrophic lateral sclerosis (sALS) as the most common TDP43 proteinopathies, were analysed. We used transcriptomics and lipidomics methods to define the steady-state levels of gene expression and lipid profiles. Our results show alterations in gene expression of some components of peroxisomes and related lipid pathways in frontal cortex area 8 in sALS, sFTLD-TDP and c9FTLD. Additionally, we identify a lipidomic pattern associated with the ALS-FTLD-TDP43 proteinopathy spectrum, notably characterised by down-regulation of ether lipids and acylcarnitine among other lipid species, as well as alterations in the lipidome of each phenotype of TDP43 proteinopathy, which reveals commonalities and disease-dependent differences in lipid composition. Globally, lipid alterations in the human frontal cortex of the ALS-FTLD-TDP43 proteinopathy spectrum, which involve cell membrane composition and signalling, vulnerability against cellular stress and possible glucose metabolism, are partly related to peroxisome impairment.

Identifiants

pubmed: 33332650
doi: 10.1111/nan.12681
pmc: PMC8248144
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

544-563

Informations de copyright

© 2020 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.

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Auteurs

Pol Andrés-Benito (P)

Neuropathology, Bellvitge University Hospital-Bellvitge Biomedical Research Institute (IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Department of Pathology and Experimental Therapeutics, University of Barcelona, Barcelona, Spain.
CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases, Institute of Health Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain.
International Initiative for Treatment and Research Initiative to Cure ALS (TRICALS, Utrecht, The Netherlands.

Ellen Gelpi (E)

Neurological Tissue Bank of the Biobanc-Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS, Barcelona, Spain.
Institute of Neurology, Medical University of Vienna, Vienna, Austria.

Mariona Jové (M)

Department of Experimental Medicine, University of Lleida - Lleida Biomedical Research Institute (UdL-IRBLleida, Lleida, Spain.

Natalia Mota-Martorell (N)

Department of Experimental Medicine, University of Lleida - Lleida Biomedical Research Institute (UdL-IRBLleida, Lleida, Spain.

Èlia Obis (È)

Department of Experimental Medicine, University of Lleida - Lleida Biomedical Research Institute (UdL-IRBLleida, Lleida, Spain.

Manuel Portero-Otin (M)

Department of Experimental Medicine, University of Lleida - Lleida Biomedical Research Institute (UdL-IRBLleida, Lleida, Spain.

Mònica Povedano (M)

International Initiative for Treatment and Research Initiative to Cure ALS (TRICALS, Utrecht, The Netherlands.
Functional Unit of Amyotrophic Lateral Sclerosis (UFELA, Service of Neurology, Bellvitge University Hospital, Hospitalet de Llobregat, Spain.

Aurora Pujol (A)

Catalan Institution for Research and Advanced Studies (ICREA, Barcelona, Spain.
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, Hospital Duran i Reynals, Hospitalet de Llobregat, Barcelona, Spain.
Center for Biomedical Research on Rare Diseases (CIBERER, Institute of Health Carlos III, Madrid, Spain.

Reinald Pamplona (R)

Department of Experimental Medicine, University of Lleida - Lleida Biomedical Research Institute (UdL-IRBLleida, Lleida, Spain.

Isidro Ferrer (I)

Neuropathology, Bellvitge University Hospital-Bellvitge Biomedical Research Institute (IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Department of Pathology and Experimental Therapeutics, University of Barcelona, Barcelona, Spain.
CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases, Institute of Health Carlos III, Ministry of Economy and Competitiveness, Madrid, Spain.
International Initiative for Treatment and Research Initiative to Cure ALS (TRICALS, Utrecht, The Netherlands.
Institute of Neurosciences, University of Barcelona, Barcelona, Spain.

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