Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders
Evidence from multiple laboratories has accumulated to show that mosaic neuronal aneuploidy and consequent apoptosis characterizes and may underlie neuronal loss in many neurodegenerative diseases, particularly Alzheimer’s disease and frontotemporal dementia. Furthermore, several neurodevelopmental...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-11-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.01092/full |
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| author | Huntington Potter Huntington Potter Heidi J. Chial Heidi J. Chial Julbert Caneus Mihret Elos Mihret Elos Nina Elder Nina Elder Sergiy Borysov Antoneta Granic Antoneta Granic Antoneta Granic |
| author_facet | Huntington Potter Huntington Potter Heidi J. Chial Heidi J. Chial Julbert Caneus Mihret Elos Mihret Elos Nina Elder Nina Elder Sergiy Borysov Antoneta Granic Antoneta Granic Antoneta Granic |
| author_sort | Huntington Potter |
| collection | DOAJ |
| description | Evidence from multiple laboratories has accumulated to show that mosaic neuronal aneuploidy and consequent apoptosis characterizes and may underlie neuronal loss in many neurodegenerative diseases, particularly Alzheimer’s disease and frontotemporal dementia. Furthermore, several neurodevelopmental disorders, including Seckel syndrome, ataxia telangiectasia, Nijmegen breakage syndrome, Niemann–Pick type C, and Down syndrome, have been shown to also exhibit mosaic aneuploidy in neurons in the brain and in other cells throughout the body. Together, these results indicate that both neurodegenerative and neurodevelopmental disorders with apparently different pathogenic causes share a cell cycle defect that leads to mosaic aneuploidy in many cell types. When such mosaic aneuploidy arises in neurons in the brain, it promotes apoptosis and may at least partly underlie the cognitive deficits that characterize the neurological symptoms of these disorders. These findings have implications for both diagnosis and treatment/prevention. |
| first_indexed | 2024-04-14T07:41:37Z |
| format | Article |
| id | doaj.art-ac43160b720c4e6590ac43290fca8e82 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-14T07:41:37Z |
| publishDate | 2019-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-ac43160b720c4e6590ac43290fca8e822022-12-22T02:05:28ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-11-011010.3389/fgene.2019.01092497717Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental DisordersHuntington Potter0Huntington Potter1Heidi J. Chial2Heidi J. Chial3Julbert Caneus4Mihret Elos5Mihret Elos6Nina Elder7Nina Elder8Sergiy Borysov9Antoneta Granic10Antoneta Granic11Antoneta Granic12Department of Neurology, Rocky Mountain Alzheimer’s Disease Center, University of Colorado, Aurora, CO, United StatesLinda Crnic Institute for Down Syndrome, University of Colorado, Aurora, CO, United StatesDepartment of Neurology, Rocky Mountain Alzheimer’s Disease Center, University of Colorado, Aurora, CO, United StatesLinda Crnic Institute for Down Syndrome, University of Colorado, Aurora, CO, United StatesNanoScience Technology Center, University of Central Florida, Orlando, FL, United StatesDepartment of Neurology, Rocky Mountain Alzheimer’s Disease Center, University of Colorado, Aurora, CO, United StatesLinda Crnic Institute for Down Syndrome, University of Colorado, Aurora, CO, United StatesDepartment of Neurology, Rocky Mountain Alzheimer’s Disease Center, University of Colorado, Aurora, CO, United StatesLinda Crnic Institute for Down Syndrome, University of Colorado, Aurora, CO, United StatesDepartment of Math and Science, Saint Leo University, Saint Leo, FL, United StatesAGE Research Group, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom Newcastle University Institute for Ageing, NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, United KingdomNewcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, United KingdomEvidence from multiple laboratories has accumulated to show that mosaic neuronal aneuploidy and consequent apoptosis characterizes and may underlie neuronal loss in many neurodegenerative diseases, particularly Alzheimer’s disease and frontotemporal dementia. Furthermore, several neurodevelopmental disorders, including Seckel syndrome, ataxia telangiectasia, Nijmegen breakage syndrome, Niemann–Pick type C, and Down syndrome, have been shown to also exhibit mosaic aneuploidy in neurons in the brain and in other cells throughout the body. Together, these results indicate that both neurodegenerative and neurodevelopmental disorders with apparently different pathogenic causes share a cell cycle defect that leads to mosaic aneuploidy in many cell types. When such mosaic aneuploidy arises in neurons in the brain, it promotes apoptosis and may at least partly underlie the cognitive deficits that characterize the neurological symptoms of these disorders. These findings have implications for both diagnosis and treatment/prevention.https://www.frontiersin.org/article/10.3389/fgene.2019.01092/fullAlzheimer’s diseaseMosaic aneuploidyFrontotemporal lobar degenerationNeuronal apoptosisHuntington’s disease (HD) |
| spellingShingle | Huntington Potter Huntington Potter Heidi J. Chial Heidi J. Chial Julbert Caneus Mihret Elos Mihret Elos Nina Elder Nina Elder Sergiy Borysov Antoneta Granic Antoneta Granic Antoneta Granic Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders Frontiers in Genetics Alzheimer’s disease Mosaic aneuploidy Frontotemporal lobar degeneration Neuronal apoptosis Huntington’s disease (HD) |
| title | Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders |
| title_full | Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders |
| title_fullStr | Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders |
| title_full_unstemmed | Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders |
| title_short | Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders |
| title_sort | chromosome instability and mosaic aneuploidy in neurodegenerative and neurodevelopmental disorders |
| topic | Alzheimer’s disease Mosaic aneuploidy Frontotemporal lobar degeneration Neuronal apoptosis Huntington’s disease (HD) |
| url | https://www.frontiersin.org/article/10.3389/fgene.2019.01092/full |
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