Evidence map›Paper›PMID 42079117›Full record

ArticlebioRxiv : the preprint server for biology2026

Epigenetically constrained astrocyte states underlie prefrontal cortex vulnerability in Down syndrome-associated Alzheimer's disease.

Chuhanwen Sun, Raina Thomas, Cherie Stringer, Kyriakitsa Galani, Li-Lun Ho, Na Sun, Ashley Renfro, Sierra Wright, Rosalind Firenze, Li-Huei Tsai and 3 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Chuhanwen SunDepartment of Genetics, School of Arts and Sciences, Rutgers University-New Brunswick, Piscataway, NJ, USA.
Raina ThomasComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Cherie StringerDepartment of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Kyriakitsa GalaniComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Li-Lun HoComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Na SunComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Ashley RenfroComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Sierra WrightDepartment of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Rosalind FirenzeDepartment of Brain and Cognitive Sciences and the Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Li-Huei TsaiBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1262-0592
Elizabeth HeadDepartment of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Manolis KellisComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.ORCID 0000-0001-7113-9630
Jiekun YangDepartment of Genetics, School of Arts and Sciences, Rutgers University-New Brunswick, Piscataway, NJ, USA.

Funding

Project 3: Biomarkers for DS Clinical TrialsU19AG068054 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CHRISTIAN, BRADLEY T · 2020 to 2025
$103.7M
The Alzheimer's Disease Research Center at the University of California, IrvineP30AG066519 · NIA · UNIVERSITY OF CALIFORNIA-IRVINE · PI Mathew Mark Blurton-Jones · 2020 to 2026
$27.9M
Neuroimmunology Training Program at the University of California, IrvineT32NS121727 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI Kim Green, Thomas E Lane · 2022 to 2026
$854k
NIA NIH HHS P30 AG066519NIA NIH HHS U19 AG068054NINDS NIH HHS T32 NS121727
6 · The paper itself

Abstract

Down syndrome (DS), caused by trisomy 21, confers a near-universal risk for Alzheimer's disease (AD), yet individuals exhibit marked variability in cognitive decline, suggesting the presence of cellular mechanisms that modulate vulnerability and resilience. However, these mechanisms remain poorly defined in the human brain. Here, we integrate matched single-nucleus RNA-seq and ATAC-seq profiles from the prefrontal cortex (PFC) and amygdala (AMY) of age-matched individuals with DS with and without AD (DSAD), enabling direct comparison within a shared genetic background. We identify basal astrocytes in the PFC as a selectively vulnerable cell state in DSAD, characterized by both reduced abundance and coordinated transcriptional and regulatory reprogramming. This state exhibits a shift away from homeostatic support functions, with decreased cytokine signaling and lipid-handling programs, alongside increased steroid- and nuclear receptor-associated activity. Concomitantly, chromatin accessibility profiling reveals reduced engagement of immune- and stress-responsive transcription factor programs, including AP-1, STAT, and BACH families, with linked regulatory perturbations at loci such as ABCA1, DAB2IP, and IL1RAP. Together, these findings define a previously unrecognized astrocyte state marked by epigenetic constraint and diminished responsiveness to stress and inflammatory signals, distinguishing it from classical reactive astrocyte phenotypes. Our results nominate PFC basal astrocytes as a key locus of vulnerability in DSAD and suggest that failure to mount appropriate astrocyte responses, rather than overt activation alone, may contribute to neurodegenerative progression.

Identifiers

PMID42079117
PMCPMC13131464

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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.