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No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Y. Baradaran-Heravi, L. Dillen, HP. Nguyen, S. Van Mossevelde, J. Baets, P. De Jonghe, S. Engelborghs, PP. De Deyn, M. Vandenbulcke, R. Vandenberghe, P. Van Damme, P. Cras, E. Salmon, M. Synofzik, P. Heutink, C. Wilke, J. Simon-Sanchez, R....

. 2018 ; 69 (-) : 293.e9-293.e11. [pub] 20180523

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc19028387

We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a combined annotation-dependent depletion score of 11.42. By contrast, 3 of the 4 variants also detected in unaffected controls, p.Val294Glu, p.Gln318Arg, and p.Ala381Thr, had combined annotation-dependent depletion scores greater than 20. Our findings in a large European patient-control series indicate that variants in TIA1 are not a common cause of ALS and FTD. The observation of recurring TIA1 missense variants in unaffected individuals lead us to conclude that the exact genetic contribution of TIA1 to ALS and FTD pathogenesis remains to be further elucidated.

Alzheimer's Disease and Other Cognitive Disorders Unit Neurology Department Hospital Clínic Institut d'Investigacions Biomediques August Pi i Sunyer Barcelona Spain

Center for Neuroscience and Cell Biology University of Coimbra Coimbra Portugal

Centre for Neurodegenerative Disorders Neurology Unit Department of Clinical and Experimental Sciences University of Brescia Italy

Cyclotron Research Centre University of Liege and Memory Clinic CHU Liege Belgium

Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research University of Tübingen Germany

Department of Neurology and Memory Clinic Hospital Network Antwerp Middelheim and Hoge Beuken Antwerp Belgium

Department of Neurology Antwerp University Hospital Edegem Belgium

Department of Neurology Memory Unit Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain and Center for Networked Biomedical Research into Neurodegenerative Disorders

Department of Neurology Neuromuscular Diseases Unit Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain and Center for Networked Biomedical Research into Rare Diseases

Department of Neurology University Hospitals Leuven Leuven Belgium

Department of Neuroscience Psychology Drug Research and Child Health University of Florence Florence Italy

Department of Neurosciences Faculty of Medicine KU Leuven Leuven Belgium

Department of Old Age Psychiatry and Memory Clinic University Hospitals Leuven Leuven Belgium

Department of Pathology 3rd Medical Faculty Charles University Prague Czech Republic

Department of Pathology and Molecular Medicine Thomayer Hospital Prague Czech Republic

Department of Psychiatry and Psychotherapy Technische Universität München München Germany

Faculty of Medicine University of Lisbon Portugal

Fundació per la Recerca Biomèdica i Social Mútua de Terrassa Terrassa Barcelona Spain

Genome Biology of Neurodegenerative Diseases German Center for Neurodegenerative Diseases Tübingen Germany

IRCCS Don Gnocchi Florence Italy

Laboratory of Neurobiology Center for Brain and Disease Research VIB Leuven Belgium

Laboratory of Neurogenetics Institute Born Bunge University of Antwerp Antwerp Belgium

Memory Disorders Unit Department of Neurology University Hospital Mutua de Terrassa Terrassa Barcelona Spain

Neurodegeneration German Center for Neurodegenerative Diseases Tübingen Germany

Neurodegenerative Brain Diseases Group VIB UAntwerp Center for Molecular Neurology Antwerp Belgium

Neurogenetics Group VIB UAntwerp Center for Molecular Neurology Antwerp Belgium

Neurological Tissue Bank of the Biobanc Hospital Clínic Institut d'Investigacions Biomediques August Pi i Sunyer Barcelona Spain

NeuroRARE Centre for Rare and Genetic Neurological and Neuromuscular Diseases and Neurogenetics Athens Greece

Citace poskytuje Crossref.org

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$a No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients / $c Y. Baradaran-Heravi, L. Dillen, HP. Nguyen, S. Van Mossevelde, J. Baets, P. De Jonghe, S. Engelborghs, PP. De Deyn, M. Vandenbulcke, R. Vandenberghe, P. Van Damme, P. Cras, E. Salmon, M. Synofzik, P. Heutink, C. Wilke, J. Simon-Sanchez, R. Rojas-Garcia, J. Turon-Sans, A. Lleó, I. Illán-Gala, J. Clarimón, B. Borroni, A. Padovani, P. Pastor, M. Diez-Fairen, M. Aguilar, E. Gelpi, R. Sanchez-Valle, S. Borrego-Ecija, R. Matej, E. Parobkova, B. Nacmias, S. Sorbi, S. Bagnoli, A. de Mendonça, C. Ferreira, MJ. Fraidakis, J. Diehl-Schmid, P. Alexopoulos, MR. Almeida, I. Santana, C. Van Broeckhoven, J. van der Zee, BELNEU Consortium, EU EOD Consortium,
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$a We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a combined annotation-dependent depletion score of 11.42. By contrast, 3 of the 4 variants also detected in unaffected controls, p.Val294Glu, p.Gln318Arg, and p.Ala381Thr, had combined annotation-dependent depletion scores greater than 20. Our findings in a large European patient-control series indicate that variants in TIA1 are not a common cause of ALS and FTD. The observation of recurring TIA1 missense variants in unaffected individuals lead us to conclude that the exact genetic contribution of TIA1 to ALS and FTD pathogenesis remains to be further elucidated.
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$a Nguyen, Hung Phuoc $u Neurodegenerative Brain Diseases Group, VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
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$a Van Mossevelde, Sara $u Neurodegenerative Brain Diseases Group, VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital (UZA), Edegem, Belgium.
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$a De Deyn, Peter P $u Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA), Middelheim and Hoge Beuken, Antwerp, Belgium.
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$a Vandenbulcke, Mathieu $u Department of Neurosciences, Faculty of Medicine, KU Leuven, Leuven, Belgium; Department of Old Age Psychiatry and Memory Clinic, University Hospitals Leuven, Leuven, Belgium.
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$a Cras, Patrick $u Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital (UZA), Edegem, Belgium.
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$a Heutink, Peter $u Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
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