ReviewCurrent Alzheimer research2016
Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease.
Review in Current Alzheimer research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 54 citations in OpenAlex.
- Multiomics and proteomic insights into Alzheimer's disease biology in Down syndrome.Expert review of neurotherapeutics · 2026Review
- Risk of Alzheimer's disease in Down syndrome: Insights gained by multi-omics.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Comparison of the amyloid plaque proteome in Down syndrome, early-onset Alzheimer's disease, and late-onset Alzheimer's disease.Acta neuropathologica · 2025Article
- Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019.American journal of medical genetics. Part C, Seminars in medical genetics · 2024Article
- Comparison of the Amyloid Plaque Proteome in Down Syndrome, Early-Onset Alzheimer's Disease and Late-Onset Alzheimer's Disease.Research square · 2024Article
- Association of Biochemical Parameters and Screening for Mutations in the MCU Gene in Alzheimer's Disease Patients.Molecular neurobiology · 2024Article
- Protein Oxidation in Aging and Alzheimer's Disease Brain.Antioxidants (Basel, Switzerland) · 2024Review
- A Review on the Use of Modern Computational Methods in Alzheimer's Disease-Detection and Prediction.Current Alzheimer research · 2024Review
- The critical role of gut-brain axis microbiome in mental disorders.Metabolic brain disease · 2023Review
- Impact of Nutritional Interventions on Alzheimer's Disease: A Systematic Review and Meta-Analysis.Cureus · 2023Review
- Somatic copy number variant load in neurons of healthy controls and Alzheimer's disease patients.Acta neuropathologica communications · 2022Article
- Detection of Embryonic Trisomy 21 in the First Trimester Using Maternal Plasma Cell-Free RNA.Diagnostics (Basel, Switzerland) · 2022Article
- Neuroinflammation in Alzheimer's Disease.Biomedicines · 2021Review
- Diet-Microbiota-Brain Axis in Alzheimer's Disease.Annals of nutrition & metabolism · 2021Review
- The Potential of Induced Pluripotent Stem Cells to Treat and Model Alzheimer's Disease.Stem cells international · 2021Review
- Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.Molecular genetics & genomic medicine · 2020Review
- Iron-responsive-like elements and neurodegenerative ferroptosis.Learning & memory (Cold Spring Harbor, N.Y.) · 2020Review
- Human-Induced Pluripotent Stem Cells and Herbal Small-Molecule Drugs for Treatment of Alzheimer's Disease.International journal of molecular sciences · 2020Review
- Mosaic Somatic Gene Recombination as a Potentially Unifying Hypothesis for Alzheimer's Disease.Frontiers in genetics · 2020Article
- Is heart disease a risk factor for low dementia test battery scores in older persons with Down syndrome? Exploratory, pilot study, and commentary.International journal of developmental disabilities · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS). Trisomy 21 and other forms of aneuploidy also arise among neurons and peripheral cells in both sporadic and familial AD and in mouse and cell models thereof, reinforcing the conclusion that AD and DS are two sides of the same coin. The demonstration that 90% of the neurodegeneration in AD can be attributed to the selective loss of aneuploid neurons generated over the course of the disease indicates that aneuploidy is an essential feature of the pathogenic pathway leading to the depletion of neuronal cell populations. Trisomy 21 mosaicism also occurs in neurons and other cells from patients with Niemann-Pick C1 disease and from patients with familial or sporadic frontotemporal lobar degeneration (FTLD), as well as in their corresponding mouse and cell models. Biochemical studies have shown that Aβ induces mitotic spindle defects, chromosome mis-segregation, and aneuploidy in cultured cells by inhibiting specific microtubule motors required for mitosis. These data indicate that neuronal trisomy 21 and other types of aneuploidy characterize and likely contribute to multiple neurodegenerative diseases and are a valid target for therapeutic intervention. For example, reducing extracellular calcium or treating cells with lithium chloride (LiCl) blocks the induction of trisomy 21 by Aβ. The latter finding is relevant in light of recent reports of a lowered risk of dementia in bipolar patients treated with LiCl and in the stabilization of cognition in AD patients treated with LiCl.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.