{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:59:28Z","timestamp":1790740768137,"version":"4.1.0"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T00:00:00Z","timestamp":1724803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons, with a typical lifespan of 3\u20135 years. Altered metabolism is a key feature of ALS that strongly influences prognosis, with an increase in whole body energy expenditure and changes in skeletal muscle metabolism, including greater reliance on fat oxidation. Dyslipidaemia has been described in ALS as part of the metabolic dysregulation, but its role in the pathophysiology of the disease remains controversial. Among the lipids, cholesterol is of particular interest as a vital component of cell membranes, playing a key role in signal transduction and mitochondrial function in muscle. The aim of this study was to investigate whether motor dysfunction in ALS might be associated with dysregulation of muscle cholesterol metabolism.<\/jats:p>\n               <jats:p>We determined cholesterol content and analysed the expression of key determinants of the cholesterol metabolism pathway in muscle biopsies from 13 ALS patients and 10 asymptomatic ALS-mutation gene carriers compared to 16 control subjects. Using human control primary myotubes, we investigated the potential contribution of cholesterol dyshomeostasis to reliance on mitochondrial fatty acid.<\/jats:p>\n               <jats:p>We found that cholesterol accumulates in the skeletal muscle of ALS patients and that cholesterol overload significantly correlates with disease severity evaluated by the Revised ALS Functional Rating Scale. These defects are associated with overexpression of the genes of the lysosomal cholesterol transporters Niemann-Pick type C1 (NPC1) and 2 (NPC2), which are required for cholesterol transfer from late endosomes\/lysosomes to cellular membranes. Most notably, a significant increase in NPC2 mRNA levels could be detected in muscle samples from asymptomatic ALS-mutation carriers, long before disease onset. We found that filipin-stained unesterified cholesterol accumulated in the lysosomal compartment in ALS muscle samples, suggesting dysfunction of the NPC1\/2 system. Accordingly, we report here that experimental NPC1 inhibition or lysosomal pH alteration in human primary myotubes was sufficient to induce the overexpression of NPC1 and NPC2 mRNA. Finally, acute NPC1 inhibition in human control myotubes induced a shift towards a preferential use of fatty acids, thus reproducing the metabolic defect characteristic of ALS muscle.<\/jats:p>\n               <jats:p>We conclude that cholesterol homeostasis is dysregulated in ALS muscle from the presymptomatic stage. Targeting NPC1\/2 dysfunction may be a new therapeutic strategy for ALS to restore muscle energy metabolism and slow motor symptom progression.<\/jats:p>","DOI":"10.1093\/brain\/awae270","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T20:39:52Z","timestamp":1724877592000},"page":"788-802","source":"Crossref","is-referenced-by-count":27,"title":["Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"148","author":[{"given":"Delphine","family":"Sapaly","sequence":"first","affiliation":[{"name":"University Paris Cit\u00e9 and Inserm UMR_S1124 , 75270, 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flore","family":"Cheguillaume","sequence":"additional","affiliation":[{"name":"University Paris Cit\u00e9 and Inserm UMR_S1124 , 75270, 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Weill","sequence":"additional","affiliation":[{"name":"University Paris Cit\u00e9 and Inserm UMR_S1124 , 75270, 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zo\u00e9","family":"Clerc","sequence":"additional","affiliation":[{"name":"University Paris Cit\u00e9 and Inserm UMR_S1124 , 75270, 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Biondi","sequence":"additional","affiliation":[{"name":"University Paris Cit\u00e9 and Inserm UMR_S1124 , 75270, 75006 Paris ,","place":["France"]},{"name":"Laboratoire de Biologie de l\u2019Exercice pour la Performance et la Sant\u00e9 (LBEPS), UMR, Universit\u00e9 d\u2019Evry, IRBA, Universit\u00e9 de Paris Saclay , 91000 \u00c9vry-Courcouronnes 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,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkat Krishnan","family":"Sundaram","sequence":"additional","affiliation":[{"name":"Paul Flechsig Institute - Centre of Neuropathology and Brain Research, Faculty of Medicine, University of Leipzig , 04103, Leipzig ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia","family":"da Silva Ramos","sequence":"additional","affiliation":[{"name":"Paul Flechsig Institute - Centre of Neuropathology and Brain Research, Faculty of Medicine, University of Leipzig , 04103, Leipzig ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Mar","family":"Amador","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, APHP, Inserm, CNRS, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences , 75013 Paris ,","place":["France"]},{"name":"APHP, Genetic department, Piti\u00e9-Salp\u00eatri\u00e8re University Hospital , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timoth\u00e9e","family":"Lenglet","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, APHP, Inserm, CNRS, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences , 75013 Paris ,","place":["France"]},{"name":"Neurophysiology Department, APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabab","family":"Debs","sequence":"additional","affiliation":[{"name":"Neurophysiology Department, APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Le Forestier","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, APHP, Inserm, CNRS, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences , 75013 Paris ,","place":["France"]},{"name":"Espaces R\u00e9gional IdF et National de R\u00e9flexion \u00c9thique-Maladies Neuro \u00c9volutives, Universit\u00e9 Paris Sud\/Paris Saclay , 75010 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Fran\u00e7ois","family":"Pradat","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, APHP, Inserm, CNRS, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences , 75013 Paris 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Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Borderie","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, APHP, Cochin Hospital , 75014 Paris ,","place":["France"]},{"name":"Faculty of Pharmacy, University Paris Cit\u00e9 and Inserm UMR_S1124 , 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Devos","sequence":"additional","affiliation":[{"name":"Pharmacology Department, University Hospital of Lille, Lille University, INSERM UMRS_1172, LICEND , 59000 Lille ,","place":["France"]},{"name":"Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND), Neuroscience Clinical Investigation Center, Paris Brain Institute , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Desnuelle","sequence":"additional","affiliation":[{"name":"Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND), Neuroscience Clinical Investigation Center, Paris Brain Institute , 75013 Paris ,","place":["France"]},{"name":"Pasteur 2 Hospital\u2014CHU de Nice , 06000 Nice ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Rolland","sequence":"additional","affiliation":[{"name":"Pharmacology Department, University Hospital of Lille, Lille University, INSERM UMRS_1172, LICEND , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baptiste","family":"Periou","sequence":"additional","affiliation":[{"name":"Cr\u00e9teil Paris Est University, INSERM, IMRB U955, and Reference centre for rare neuromuscular diseases, AP-HP, Henri Mondor Hospital 94010 , 94010 Cr\u00e9teil 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Myology Institute, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , 75013 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Charbonnier","sequence":"additional","affiliation":[{"name":"University Paris Cit\u00e9 and Inserm UMR_S1124 , 75270, 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1905-7985","authenticated-orcid":false,"given":"Ga\u00eblle","family":"Bruneteau","sequence":"additional","affiliation":[{"name":"Myology Center For Research, UMRS974, Sorbonne University, INSERM , 75013 Paris ,","place":["France"]},{"name":"Sorbonne Universit\u00e9, APHP, Inserm, CNRS, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris ALS expert center, Department of NeurologyCIC Neurosciences , 75013 Paris ,","place":["France"]},{"name":"Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND), 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