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Sutherland, G. T.

Publications and source records attributed to Sutherland, G. T..

6 recordsLinked to original sources

An end-to-end framework for single-cell-resolution, whole-transcriptomic spatial profiling in post-mortem human brain

Single-cell resolution spatial transcriptomics enables transcriptome-wide molecular profiling within intact tissue architecture, providing unprecedented opportunities to investigate cellular organization and disease-associated molecular states in the human brain. However, applying these technologies to post-mortem human brain tissue remains challenging due to RNA degradation, heterogeneity in tissue preservation, and a lack of standardized analytical workflows. These challenges are particularly pronounced for whole-transcriptome platforms, where successful implementation requires optimization of both experimental and computational procedures. Here, we present an end-to-end framework for single-cell-resolution, whole-transcriptome spatial transcriptomics of fresh-frozen (FF) and formalin-fixed paraffin-embedded (FFPE) post-mortem human brain tissue. The framework combines an optimized experimental workflow with a preservation-agnostic bioinformatics pipeline for data processing, integration, and annotation. Experimentally, we show that a condensed two-day Visium HD workflow provides improved library quality, lowered qPCR cycle thresholds, and more consistent fragment size distributions. Sequencing saturation analyses further identified cost-effective sequencing depths that maximize transcript recovery while minimizing redundant sequencing. Computationally, we established a scalable workflow incorporating DAPI-based nuclear segmentation, transcript assignment, quality control, reference-guided integration, clustering, and cell-type annotation. We implemented a reference-based highly variable gene selection strategy to enable robust cross-sample harmonization independent of tissue preservation method. Application of this framework to seven Alzheimers disease frontal cortex specimens (five FF and two FFPE) generated a unified single-cell spatial transcriptomic atlas comprising more than 530,000 spatially resolved cells. The integrated dataset resolved major neuronal, glial, and vascular cell populations, recapitulated expected cortical architecture, and enabled direct comparison of FF- and FFPE-derived spatial transcriptomic profiles. Together, this work provides a practical experimental and computational framework for single-cell resolution, whole-transcriptome spatial transcriptomics in post-mortem human brain tissue and delivers a publicly available resource that expands the utility of archived and frozen specimens for studies of neurodegeneration and other neurological disorders. ImportanceSpatial transcriptomics of human post-mortem brain tissue is limited by RNA degradation, preservation variability, and lack of standardized workflows. Here, we present an end-to-end framework combining an optimized two-day Visium HD protocol with a preservation-agnostic bioinformatics pipeline. This approach improves library quality, defines efficient sequencing strategies, and enables robust spatial profiling across both FF and FFPE samples. Applied to Alzheimers disease brain tissue, it generates high-resolution single-cell spatial data and expands the utility of archived and frozen specimens for studying neurodegenerative diseases.

neuroscience↗

Alcohol Use Disorder Affects Brain Metals

BackgroundOne of the risks associated with alcohol use disorder (AUD) is dementia. While the exact pathology is unknown, there is increasing evidence that alcohol consumption may dysregulate iron homeostasis in the brain leading to increased brain iron concentrations. Unregulated iron can produce oxidative stress and cellular damage to neurons. Iron-related cellular death is a relatively new finding and is called ferroptosis. To test the hypothesis that alcohol use disorder may cause brain iron dysregulation, we measured iron in hippocampus, caudate and substantia nigra in brain tissues obtained from individuals diagnosed with (AUD) and from individuals with no apparent alcohol-related problems. MethodsWe obtained hippocampus, caudate, and substantia nigra tissues from the New South Wales Brain Tissue Resource Centre, University of Sydney. The tissues came from 20 males and 20 females, half of each diagnosed with AUD. The tissues were wet-ashed and prepared for analysis of iron, copper, and zinc by total x-ray reflectance fluorescence. ResultsIn the hippocampus, we observed AUD-related decreased iron, but nothing more. In the substantia nigra, we observed a significant increase in iron and a trend toward an in increase in copper content in females and decreased iron and zinc in males. In the caudate we saw a near doubling of iron in females and a significant increase in copper in females and males. ConclusionsThese results provide direct evidence that at least part of AUD-related pathophysiology involves the dysregulation of trace metals in the brain. These changes are more severe in females, which may relate to extended levels of exposure due to slower alcohol metabolism.

neuroscience↗

Integrative genomics approach identifies glial transcriptomic dysregulation and risk in the cortex of individuals with Alcohol Use Disorder

Alcohol use disorder (AUD) is a prevalent neuropsychiatric disorder that is a major global health concern, affecting millions of people worldwide. Past molecular studies of AUD used underpowered single cell analysis or bulk homogenates of postmortem brain tissue, which obscures gene expression changes in specific cell types. Here we performed single nuclei RNA-sequencing analysis of 73 post-mortem samples from individuals with AUD (N=36, Nnuclei= 248,873) and neurotypical controls (N=37, Nnuclei= 210,573) in both sexes across two institutional sites. We identified 32 clusters and found widespread cell type-specific transcriptomic changes across the cortex in AUD, particularly affecting glia. We found the greatest dysregulation in novel microglial and astrocytic subtypes that accounted for the majority of differential gene expression and co-expression modules linked to AUD. Analysis for cell type-specific enrichment of aggregate genetic risk for AUD identified subtypes of microglia and astrocytes as potential key players not only affected by but causally linked to the progression of AUD. These results highlight the importance of cell-type specific molecular changes in AUD and offer opportunities to identify novel targets for treatment.

neuroscience↗

Astrocytic glutamate regulation is implicated in the development of stress-related psychiatric disorders

Astrocytes are a brain cell type vulnerable to the effects of stress and the development of psychiatric-like phenotypes in animals, yet how this translates to humans is unclear. Here, we probed the diversity of [~]145,000 total human cortical astrocytes with single nucleus and spatial transcriptomics, showing that human astrocytes comprise a molecularly and anatomically diverse cell population. In individuals with psychiatric disorders and high adversity exposure, we identified distinct alterations to glutamate-related synaptic functions, supported by histological quantification of >20,000 astrocytes. Early-life adversity exposure produced more pronounced cellular changes than adversity experienced later in life, and female cases displayed stronger transcriptomic associations than males with adversity exposure. Human pluripotent stem cell-derived astrocytes from both two- and three-dimensional models confirmed that glutamate signalling is directly impacted by glucocorticoid activation. Our findings highlight astrocytes as crucial players in how exposure to severe adversity raises risk to psychopathology and position them as strategic pharmacological targets for future intervention strategies.

neuroscience↗

Systematic characterization of brain cellular crosstalk signaling networks in Alzheimer's disease reveals a novel role for SEMA6D in TREM2-dependent microglial activation

Cellular crosstalk, mediated by membrane receptors and their ligands, is crucial for brain homeostasis and can contribute to neurodegenerative diseases such as Alzheimers disease (AD). To discover crosstalk dysregulations in AD, we reconstructed crosstalk networks from single-nucleus transcriptional profiles from 67 clinically and neuropathologically well-characterized controls and AD brain donors. We predicted a significant role for TREM2 and additional AD risk genes mediating neuron-microglia crosstalk in AD. The gene sub-network mediating SEMA6D-TREM2 crosstalk is activated near A{beta} plaques and SEMA6D-expressing cells and is disrupted in late AD stages. Using CRISPR-modified human induced pluripotent stem cell-derived microglia, we demonstrated that SEMA6D induces microglial activation in a TREM2-dependent manner. In summary, we demonstrate that characterizing cellular crosstalk networks can yield novel insights into AD biology. One Sentence SummaryWe investigate cell-to-cell communication in Alzheimers disease to characterize disease biology and suggest new avenues for therapeutic intervention.

neuroscience↗

Spatial analysis for highly multiplexed imaging data to identify tissue microenvironments

Highly multiplexed in situ imaging cytometry assays have made it possible to study the spatial organisation of numerous cell types simultaneously. We have addressed the challenge of quantifying complex multi-cellular relationships by proposing a statistical method which clusters local indicators of spatial association. Our approach successfully identifies distinct tissue architectures in datasets generated from three state-of-the-art high-parameter assays demonstrating its value in summarising the information-rich data generated from these technologies.

bioinformatics↗