ArticleBrain : a journal of neurology2019
Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.
Article in Brain : a journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- IsmedRxiv : the preprint server for health sciences · 2026Article
- Exploring causal relationships between epigenetic age acceleration and Alzheimer's disease: a bidirectional Mendelian randomization study.Clinical epigenetics · 2025Article
- Histone Deacetylation in Alzheimer's Diseases (AD); Hope or Hype.Cell biochemistry and biophysics · 2025Review
- Deciphering Alzheimer's disease transcriptomics: exploration and validation of core genes in tau and Aβ pathological models toward novel therapeutic targets.Frontiers in aging neuroscience · 2025Article
- A multi-looping chromatin signature predicts dysregulated gene expression in neurons with familial Alzheimer's disease mutations.bioRxiv : the preprint server for biology · 2024Article
- Gene-environment interactions in Alzheimer disease: the emerging role of epigenetics.Nature reviews. Neurology · 2022Review
- Transcriptomic profiling of sporadic Alzheimer's disease patients.Molecular brain · 2022Article
- Epigenetics in Alzheimer's Disease.Frontiers in aging neuroscience · 2022Review
- Roles of physical exercise in neurodegeneration: reversal of epigenetic clock.Translational neurodegeneration · 2021Review
- An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.The Journal of experimental medicine · 2021Article
- Combined epigenetic/genetic study identified an ALS age of onset modifier.Acta neuropathologica communications · 2021Article
- Early-Onset Alzheimer's Disease: What Is Missing in Research?Current neurology and neuroscience reports · 2021Review
- DNA Methylation Clocks and Their Predictive Capacity for Aging Phenotypes and Healthspan.Neuroscience insights · 2020Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
Age at onset of Alzheimer's disease is highly variable, and its modifiers (genetic or environmental) could act through epigenetic changes, such as DNA methylation at CpG sites. DNA methylation is also linked to ageing-the strongest Alzheimer's disease risk factor. DNA methylation age can be calculated using age-related CpGs and might reflect biological ageing. We conducted a clinical, genetic and epigenetic investigation of a unique Ashkenazi Jewish family with monozygotic triplets, two of whom developed Alzheimer's disease at ages 73 and 76, while the third at age 85 has no cognitive complaints or deficits in daily activities. One of their offspring developed Alzheimer's disease at age 50. Targeted sequencing of 80 genes associated with neurodegeneration revealed that the triplets and the affected offspring are heterozygous carriers of the risk APOE ε4 allele, as well as rare substitutions in APP (p.S198P), NOTCH3 (p.H1235L) and SORL1 (p.W1563C). In addition, we catalogued 52 possibly damaging rare variants detected by NeuroX array in affected individuals. Analysis of family members on a genome-wide DNA methylation chip revealed that the DNA methylation age of the triplets was 6-10 years younger than chronological age, while it was 9 years older in the offspring with early-onset Alzheimer's disease, suggesting accelerated ageing.
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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.