bioRxiv Science⌕ Search

bioRxiv · 10.1101/2025.07.31.667719

Multi-region spatial transcriptomics reveals region specific differences in response to amyloid beta (Aβ) plaque induced changes in Alzheimer's Disease (AD)

Abstract

Alzheimers disease (AD) is the leading cause of dementia affecting 55 million people worldwide. The pathological hallmarks of AD, beta-amyloid (A{beta}) plaques and neurofibrillary tangles (NFT), follow distinct stereotypical patterns of progression across brain regions and trigger a multicellular response that ultimately leads to neuronal loss and cognitive decline. Despite the uniform spread of A{beta} plaque across the cortex during AD progression, different regions demonstrate varying levels of vulnerability and resilience to temporal A{beta} plaque induced changes, such as NFT accumulation. There is a critical gap in our understanding of the cell types and molecular mechanisms that underlie these region-specific differences in resilience to A{beta} plaque induced changes. In this study, we hypothesized that brain region and cell type specific transcriptional responses within the A{beta} microenvironment, and more broadly within the grey matter, may contribute to this variation. We carried out matched multi-region spatial transcriptomics and A{beta} immunofluorescence staining from the entorhinal, occipito-temporal, dorsolateral prefrontal and striate cortices from two individuals with Braak III and Thal 4 AD. Spatiotemporal comparisons of cell type proportions, gene expression, and cell-cell communication revealed differences in the vulnerability of somatostatin and somatostatin chondrolectin inhibitory neurons and the expression of endosomal and lysosomal trafficking and metallothionein genes within the A{beta} plaque microenvironment. We also observed variations in blood-brain-barrier dysfunction, fibroblast growth factor signaling, and vascular impairment and repair related cell-cell communication networks within the grey matter. Our results demonstrate the value of simultaneously profiling AD-omic and spatial modalities in multiple regions to elucidate how cortical region-specific differences contribute to selective vulnerability and resilience during neurodegeneration.

Source connections

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Bayaraa, O., Aksu, M., DeBose-Scarlett, E., Hocke, E., Jain, V., Wang, S.-H. J., Cruz, D., Gregory, S. G.. 2025-08-02. Multi-region spatial transcriptomics reveals region specific differences in response to amyloid beta (Aβ) plaque induced changes in Alzheimer's Disease (AD). https://doi.org/10.1101/2025.07.31.667719

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

Contig-Resolved Genetic Context of Antimicrobial Resistome in Sediments of Two Contrasting Wastewater-Impacted Rivers

River sediments harbor diverse antimicrobial resistance (AMR) determinants; however, gene abundance alone provides limited insight into their genomic context, mobility potential, and associated bacterial hosts. This study employed an assembly- and read-mapping metagenomic framework to surface-sediment metagenomes (40.78 Gb clean data) from two contrasting wastewater-impacted Indian rivers, Adyar (Chennai) and Musi (Hyderabad), retaining sample-, contig- and open reading frame level provenance. ARG-carrying contigs (ACCs; n = 2,402) were annotated for mobile genetic elements (MGEs), biocide/metal resistance genes (BMRGs), virulence factor genes (VFGs), nitrogen-cycling genes (NCycGs), and putative host taxonomy. The resistomes exhibited substantial diversity (264 ARG subtypes) and spatial heterogeneity, with subtype richness in the Adyar (up to 171 subtypes) than in the Musi, where richness progressively declined downstream. Rank IV determinants dominated ARG abundance (77.82%), whereas Rank I determinants accounted for only 9.89%. MGEs were detected on just 3.12% (75/2,402) of ACCs, predominantly comprising plasmid-like contigs and proximal ARG-MGE associations. Co-occurrence with BMRGs was observed on 386 ACCs, whereas VFGs were uncommon (26 ACCs) and primarily represented dual-annotated efflux and envelope-integrity determinants rather than independent virulence loci. NCyc annotations were sparse (12 ACCs), with no evidence of complete nitrification or denitrification pathways. Taxonomic classification resolved 217 ACCs to the species level, with no matches to curated human pathogenic bacteria. Only two Acinetobacter-assigned ACCs exhibited both genus-level pathogenicity and mobility evidence. These findings highlight the importance of integrating mobility and host-taxonomic information to distinguish baseline environmental resistance from potential priorities for AMR surveillance.

genomics↗

Time-resolved single-cell screening reveals the dynamic regulatory architecture of human cardiogenesis

Congenital heart disease (CHD) originates during early embryogenesis, yet when disease genes act cannot be determined from existing data. Human fetal heart atlases lack critical time points, and perturbation screens that systematically assess gene function currently profile at most a few time points. Here we combined single-cell CRISPR screening of 400 disease-relevant genes in cardioids, sampled daily over seven developmental days (~975,000 cells), with a matched multiome atlas. Perturbation phenotypes were strongly dependent on developmental stage. Perturbations that reshaped cell-fate allocation or gene expression were enriched for CHD-linked genes, and most acted already during progenitor stages. Timing was largely independent of the target gene's own expression, marking instead when a cell state became functionally dependent on it, and some effects persisted after expression declined. Consensus gene regulatory networks integrating perturbation and multiome data recovered stage-specific regulators and nominated HOXB2 and HOXB3 as candidate cardiac regulators. Many perturbations converged on shared downstream programmes, which were reorganised through differentiation. Effects correlated in progenitors were maintained in differentiated cells, split into distinct programmes, converged with other perturbations or disappeared entirely, indicating that gene function is highly context dependent. Beyond advancing our understanding of the developmental regulatory logic underlying CHD, our work provides a resource for developing context-dependent models for in silico prediction of perturbation effects.

genomics↗

A Y-specific translocated gsdf copy is a candidate master sex-determining gene in common dab (Limanda limanda)

Sex-determining systems in flatfishes are highly diverse, and even closely related species can differ in both sex-determining loci and heterogametic systems. In common dab (Limanda limanda), the genetic basis of sex determination has not yet been established. Here, we investigated sex determination using pooled whole-genome sequencing combined with long-read genome sequencing of females and males from Iceland and Norway. Genome-wide allele-frequency analyses identified sex-associated regions consistent with male heterogamety (XX/XY), with the strongest signal on chromosome 16. Comparison of the existing reference assembly, which represents an X haplotype at this locus, with a haplotype-resolved male PacBio HiFi assembly revealed a [~]21.5 kb Y-specific insertion on chromosome 16. The insertion showed complete coverage in male pools but little or no coverage in female pools from either population. It contained a translocated genomic segment including a copy of gonadal soma-derived factor (gsdf) and a predicted gene of unknown function. Comparative genomic analyses were consistent with this segment originating from an autosomal gsdf-containing region on chromosome 1. Given the recurrent recruitment of gsdf as a sex-determining factor in teleosts, we designate the Y-linked copy gsdfY and identify it as the strongest candidate for the master sex-determining gene in common dab. Additional broad sex-associated differentiation on chromosome 19 was restricted to the Icelandic samples and may reflect population-specific expansion of the sex-linked region, although its structural basis remains unresolved. Together, these findings provide the first genomic characterization of sex determination in common dab and demonstrate how gene duplication and translocation can contribute to the evolution of novel sex-determining systems in flatfishes.

genomics↗