ArticleMolecular cytogenetics2014
X chromosome aneuploidy in the Alzheimer's disease brain.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 139 citations in OpenAlex.
- Alzheimer's disease: genetic background in the era of next-generation sequencing technologies.Brain communications · 2026Review
- Long-read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Assessment of X Chromosome Centromere Instability in Alzheimer's Disease: A Quantitative FISH Approach.Current issues in molecular biology · 2025Article
- The X chromosome's influences on the human brain.Science advances · 2025Article
- Sex and gender differences in cognitive resilience to aging and Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress.Journal of molecular neuroscience : MN · 2024Article
- Article
- Sex-based differences in effector cells of the adaptive immune system during Alzheimer's disease and related dementias.Neurobiology of disease · 2023Review
- Chromosomal and gonadal factors regulate microglial sex effects in the aging brain.Brain research bulletin · 2023Review
- FISHing for Chromosome Instability and Aneuploidy in the Alzheimer's Disease Brain.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Somatic copy number variant load in neurons of healthy controls and Alzheimer's disease patients.Acta neuropathologica communications · 2022Article
- Review
- Reducing the aneuploid cell burden - cell competition and the ribosome connection.Disease models & mechanisms · 2022Review
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Mosaic loss of Chromosome Y in aged human microglia.Genome research · 2022Article
- Svetlana G. Vorsanova (1945-2021).Molecular cytogenetics · 2022Article
- Satellite DNAs and human sex chromosome variation.Seminars in cell & developmental biology · 2022Review
- Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.Molecular cytogenetics · 2022Article
- Sex Differences in Alzheimer's Disease: Insights From the Multiomics Landscape.Biological psychiatry · 2022Review
- Exploring Sex-Related Differences in Microglia May Be a Game-Changer in Precision Medicine.Frontiers in aging neuroscience · 2022Review
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough the link between brain aging and Alzheimer's disease (AD) is a matter of debate, processes hallmarking cellular and tissue senescence have been repeatedly associated with its pathogenesis. Here, we have studied X chromosome aneuploidy (a recognized feature of aged cell populations) in the AD brain.
resultsExtended molecular neurocytogenetic analyses of X chromosome aneuploidy in 10 female AD as well as 10 age and sex matched female control postmortem brain samples was performed by multiprobe/quantitative FISH. Additionally, aneuploidy rate in the brain samples of 5 AD and as 5 age and sex matched control subjects were analyzed by interphase chromosome-specific multicolor banding (ICS-MCB). Totally, 182,500 cells in the AD brain and 182,500 cells in the unaffected brain were analyzed. The mean rate of X chromosome aneuploidy in AD samples was approximately two times higher than in control (control: mean - 1.32%, 95% CI 0.92- 1.71%; AD: mean - 2.79%, 95% CI 1.88-3.69; P = 0.013). One AD sample demonstrated mosaic aneuploidy of chromosome X confined to the hippocampus affecting about 10% of cells. ICS-MCB confirmed the presence of X chromosome aneuploidy in the hippocampal tissues of AD brain (control: mean - 1.74%, 95% CI 1.38- 2.10%; AD: mean - 4.92%, 95% CI 1.14-8.71; P < 0.001).
conclusionsAddressing X chromosome number variation in the brain, we observed that somatically acquired (post-zygotic) aneuploidy causes large-scale genomic alterations in neural cells of AD patients and, therefore, can be involved in pathogenesis of this common neurodegenerative disorder. In the context of debates about possible interplay between brain aging and AD neurodegeneration, our findings suggest that X chromosome aneuploidy can contribute to both processes. To this end we conclude that mosaic aneuploidy in the brain is a new non-heritable genetic factor predisposing to AD.
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