Abstract

Individuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer’s disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome 21 gene APP (amyloid precursor protein) and the extra copy or ‘dose’ of APP is thought to be the cause of this early-onset Alzheimer’s disease. However, other chromosome 21 genes likely modulate disease when in three-copies in people with Down syndrome. Here we show that an extra copy of chromosome 21 genes, other than APP, influences APP/Aβ biology. We crossed Down syndrome mouse models with partial trisomies, to an APP transgenic model and found that extra copies of subgroups of chromosome 21 gene(s) modulate amyloid-β aggregation and APP transgene-associated mortality, independently of changing amyloid precursor protein abundance. Thus, genes on chromosome 21, other than APP, likely modulate Alzheimer’s disease in people who have Down syndrome.

Details

Title
Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models
Author
Tosh, Justin L 1 ; Rhymes, Elena R 2 ; Mumford, Paige 3 ; Whittaker, Heather T 2 ; Pulford, Laura J 2 ; Noy, Sue J 2 ; Cleverley, Karen 2 ; Strydom, Andre 4 ; Fisher, Elizabeth 2 ; Wiseman, Frances 3 ; Nizetic Dean 5 ; Hardy, John 6 ; Tybulewicz Victor 7 ; Karmiloff-Smith, Annette 8 ; Walker, Matthew C 9 ; Tybulewicz Victor L J 7 ; Wykes, Rob C 10 ; Fisher, Elizabeth M, C 2 ; Wiseman, Frances K 3 

 University College London, Department of Neuromuscular Diseases, Queen Square Institute of Neurology, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201); The Francis Crick Institute, London, UK (GRID:grid.451388.3) (ISNI:0000 0004 1795 1830) 
 University College London, Department of Neuromuscular Diseases, Queen Square Institute of Neurology, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201) 
 University College London, The UK Dementia Research Institute, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201) 
 King’s College London, Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, London, UK (GRID:grid.13097.3c) (ISNI:0000 0001 2322 6764); University College London, Division of Psychiatry, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201) 
 Queen Mary University of London, Blizard Institute, Barts and the London School of Medicine, London, UK (GRID:grid.4868.2) (ISNI:0000 0001 2171 1133); Nanyang Technological University, Lee Kong Chian School of Medicine, Singapore, Singapore (GRID:grid.59025.3b) (ISNI:0000 0001 2224 0361) 
 University College London, The UK Dementia Research Institute, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201); University College London, Reta Lila Weston Institute, Institute of Neurology, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201) 
 The Francis Crick Institute, London, UK (GRID:grid.451388.3) (ISNI:0000 0004 1795 1830); Imperial College, Department of Immunology and Inflammation, London, UK (GRID:grid.7445.2) (ISNI:0000 0001 2113 8111) 
 Birkbeck University, London, UK (GRID:grid.88379.3d) (ISNI:0000 0001 2324 0507) 
 University College London, Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201) 
10  University College London, Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201); University of Manchester, Nanomedicine Lab and the Geoffrey Jefferson Brain Research Center, Manchester, UK (GRID:grid.5379.8) (ISNI:0000000121662407) 
Publication year
2021
Publication date
2021
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2552184565
Copyright
© The Author(s) 2021. corrected publication 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.