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Sökning: onr:"swepub:oai:DiVA.org:umu-206031" > Large-scale analyse...

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FältnamnIndikatorerMetadata
00011238naa a2200817 4500
001oai:DiVA.org:umu-206031
003SwePub
008230327s2023 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2060312 URI
0247 a https://doi.org/10.3389/fncel.2023.11124052 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Adey, Brett N.u Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom4 aut
2451 0a Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival
264 c 2023-03-02
264 1b Frontiers Media S.A.c 2023
338 a electronic2 rdacarrier
520 a Introduction: Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in amyotrophic lateral sclerosis (ALS). Disease-associated variants have been identified within CAV1/2 enhancers, which reduce gene expression and lead to disruption of membrane lipid rafts.Methods: Using large ALS whole-genome sequencing and post-mortem RNA sequencing datasets (5,987 and 365 tissue samples, respectively), and iPSC-derived motor neurons from 55 individuals, we investigated the role of CAV1/2 expression and enhancer variants in the ALS phenotype.Results: We report a differential expression analysis between ALS cases and controls for CAV1 and CAV2 genes across various post-mortem brain tissues and three independent datasets. CAV1 and CAV2 expression was consistently higher in ALS patients compared to controls, with significant results across the primary motor cortex, lateral motor cortex, and cerebellum. We also identify increased survival among carriers of CAV1/2 enhancer mutations compared to non-carriers within Project MinE and slower progression as measured by the ALSFRS. Carriers showed a median increase in survival of 345 days.Discussion: These results add to an increasing body of evidence linking CAV1 and CAV2 genes to ALS. We propose that carriers of CAV1/2 enhancer mutations may be conceptualised as an ALS subtype who present a less severe ALS phenotype with a longer survival duration and slower progression. Upregulation of CAV1/2 genes in ALS cases may indicate a causal pathway or a compensatory mechanism. Given prior research supporting the beneficial role of CAV1/2 expression in ALS patients, we consider a compensatory mechanism to better fit the available evidence, although further investigation into the biological pathways associated with CAV1/2 is needed to support this conclusion.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
653 a ALS (Amyotrophic lateral sclerosis)
653 a Cav
653 a CAV1 and CAV2
653 a caveolin
653 a differential expression analysis (DEA)
653 a enhancer variant
653 a neurodegeneration
653 a survival analysis
7001 a Cooper-Knock, Johnathanu Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom4 aut
7001 a Al Khleifat, Ahmadu Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom4 aut
7001 a Fogh, Isabellau Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom4 aut
7001 a van Damme, Philipu Department of Neurosciences, KU Leuven-University of Leuven, Experimental Neurology, Leuven Brain Institute (LBI), Leuven, Belgium; VIB, Center for Brain and Disease Research, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium4 aut
7001 a Corcia, Philippeu UMR 1253, Université de Tours, Inserm, Tours, France; Centre de référence sur la SLA, CHU de Tours, Tours, France4 aut
7001 a Couratier, Philippeu Centre de référence sur la SLA, CHRU de Limoges, Limoges, France; UMR 1094, Université de Limoges, Inserm, Limoges, France4 aut
7001 a Hardiman, Orlau Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland4 aut
7001 a McLaughlin, Russellu Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland4 aut
7001 a Gotkine, Marcu Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel; Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah Medical Center, Jerusalem, Israel4 aut
7001 a Drory, Vivianu Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel4 aut
7001 a Silani, Vincenzou Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan, Italy4 aut
7001 a Ticozzi, Nicolau Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan, Italy4 aut
7001 a Veldink, Jan H.u Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands4 aut
7001 a van den Berg, Leonard H.u Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands4 aut
7001 a de Carvalho, Mamedeu Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal4 aut
7001 a Pinto, Susanau Umeå universitet,Neurovetenskaper,Instituto de Fisiologia, Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal4 aut
7001 a Mora Pardina, Jesus S.u ALS Unit, Hospital San Rafael, Madrid, Spain4 aut
7001 a Povedano Panades, Mónicau Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Service of Neurology, Bellvitge University Hospital, Barcelona, L’Hospitalet de Llobregat, Spain4 aut
7001 a Andersen, Peter M.,d 1962-u Umeå universitet,Neurovetenskaper4 aut0 (Swepub:umu)pean0001
7001 a Weber, Markusu Neuromuscular Diseases Unit/ALS Clinic, St. Gallen, Switzerland4 aut
7001 a Başak, Nazli A.u Koc University School of Medicine, Translational Medicine Research Center, NDAL, Istanbul, Turkey4 aut
7001 a Shaw, Christopher E.u Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom4 aut
7001 a Shaw, Pamela J.u Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom4 aut
7001 a Morrison, Karen E.u School of Medicine, Dentistry and Biomedical Sciences, Queen’s University Belfast, Belfast, United Kingdom4 aut
7001 a Landers, John E.u Department of Neurology, University of Massachusetts Medical School, MA, Worcester, United States4 aut
7001 a Glass, Jonathan D.u Department of Neurology, Emory University School of Medicine, GA, Atlanta, United States4 aut
7001 a Vourc’h, Patricku Department of Neurology, University Hospitals Leuven, Leuven, Belgium; Service de Biochimie et Biologie molécularie, CHU de Tours, Tours, France4 aut
7001 a Dobson, Richard J. B.u Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom; National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London, Maudsley NHS Foundation Trust, King’s College London, London, United Kingdom; Institute of Health Informatics, University College London, London, United Kingdom; NIHR Biomedical Research Centre at University College London Hospitals, NHS Foundation Trust, London, United Kingdom4 aut
7001 a Breen, Geromeu Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom4 aut
7001 a Al-Chalabi, Ammaru Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom; King’s College Hospital, London, United Kingdom4 aut
7001 a Jones, Ashley R.u Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom4 aut
7001 a Iacoangeli, Alfredou Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom; National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London, Maudsley NHS Foundation Trust, King’s College London, London, United Kingdom4 aut
7102 a Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdomb Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom4 org
7730 t Frontiers in Cellular Neuroscienced : Frontiers Media S.A.g 17q 17x 1662-5102
8564 u https://doi.org/10.3389/fncel.2023.1112405y Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:1746098/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206031
8564 8u https://doi.org/10.3389/fncel.2023.1112405

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