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Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease

ABSTRACT: Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease

PROVIDER: PRJNA922204 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR22821012_1.fastq.gz	Fastqsanger.gz
	SRR22821012_2.fastq.gz	Fastqsanger.gz
	SRR22821013_1.fastq.gz	Fastqsanger.gz
	SRR22821013_2.fastq.gz	Fastqsanger.gz
	SRR22821014_1.fastq.gz	Fastqsanger.gz

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Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [spatial transcriptomics]

Project description:Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [spatial transcriptomics]

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Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [snRNA-seq]

Project description:Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [snRNA-seq]

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Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [snRNA-seq]

Project description:The heterogeneous etiology of Alzheimer’s disease (AD) challenges therapeutic development. Understanding cell type gene expression specificity and local spatial contributions to different AD etiologies is instrumental to optimize therapeutic strategies for precision medicine. In this study, we compared cell-specific transcriptomes from the frontal cortex of carriers with the autosomal dominant mutation, PSEN1-E280A, Sporadic AD and Controls. Among the pathways that distinguished the autosomal dominant AD mutation disease from sporadic AD was increased autophagy and proteostasis pathways in astrocytes and oligodendrocytes in the former. Synaptic genes associated with neurofibrillary tangles in excitatory neurons were increased in both sporadic AD and mutation carriers. Spatial transcriptomics in samples from frontal cortex and CA1 hippocampus in PSEN1-E280A cases compared to non-diseased control individuals further validated the activation of chaperone-mediated autophagy genes and NFT-associated genes in E280A cases compared to controls. In conclusion, although autosomal dominant Alzheimer’s disease (ADAD) and sporadic AD share many features, the uniqueness of the cellular responses in each condition must be taken into consideration when designing clinical studies and therapeutics.

2024-02-28 | GSE222494 | GEO

Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease [spatial transcriptomics]

Project description:The heterogeneous etiology of Alzheimer’s disease (AD) challenges therapeutic development. Understanding cell type specificity and local spatial contributions to different AD etiologies is instrumental to optimize therapeutic strategies for precision medicine. In this study, we compared cell-specific transcriptomes from the frontal cortex of carriers with the autosomal dominant mutation, PSEN1-E280A, sporadic AD and controls. Among the pathways that distinguished the autosomal dominant AD mutation disease from sporadic AD was increased autophagy and proteostasis pathways in astrocytes and oligodendrocytes in the former. Synaptic genes associated with neurofibrillary tangles in excitatory neurons were increased in both sporadic AD and mutation carriers. Spatial transcriptomics in samples from frontal cortex and CA1 hippocampus in PSEN1-E280A cases compared to non-diseased control individuals further validated the activation of chaperone-mediated autophagy genes and NFT-associated genes in E280A cases compared to controls. In conclusion, although autosomal dominant Alzheimer’s disease (ADAD) and sporadic AD share many features, the uniqueness of the cellular responses in each condition must be taken into consideration when designing clinical studies and therapeutics.

2024-02-28 | GSE221365 | GEO

Single Nucleus RNA Sequencing Distinguishes an Autosomal Dominant Form of Alzheimer´s Disease from Sporadic Disease

Project description:This SuperSeries is composed of the SubSeries listed below.

2024-02-28 | GSE222495 | GEO

Proteome of systemic extracellular vesicles from sporadic and familiar Alzheimer’s disease

Project description:Evidence suggests that extracellular vesicles (EVs) act as mediators and biomarkers of neurodegenerative diseases. Two distinct forms of Alzheimer Disease (AD) are known: a late-onset sporadic form (SAD) and an early-onset familial form (FAD). This project aims to characterize and compare the protein profile of systemic EVs from postmortem SAD and FAD patients and compared them to postmortem controls. We used LC-MS/MS label-free analysis.

2021-09-09 | PXD021718 | Pride

Alzheimer Disease peripheral blood mononuclear cell expression

Project description:Comparisons between the sample groups (normal elderly control (NEC) and Alzheimer disease (AD)) allow the identification of genes with disease and gender expression patterns. Keywords: biological repeat

2006-10-13 | GSE4226 | GEO

Transcriptomic profiling of sporadic Alzheimer’s disease patients

Project description:Alzheimer’s disease (AD) manifested before age 65 is commonly referred to as early-onset AD (EOAD). While the majority (> 90%) of EOAD cases are not caused by autosomal-dominant mutations in PSEN1, PSEN2, and APP, they do have a higher heritability (92–100%) than sporadic late-onset AD (LOAD, 70%). Although the endpoint clinicopathological changes, i.e., Aβ plaques, tau tangles, and cognitive decline, are common across EOAD and LOAD, the disease progression is highly heterogeneous. This heterogeneity, leading to temporally distinct age at onset (AAO) and stages of cognitive decline, may be caused by myriad combinations of distinct disease-associated molecular mechanisms. We and others have used transcriptome profiling in AD patient-derived neuron models of autosomal-dominant EOAD and sporadic LOAD to identify disease endotypes. Further, analyses of large postmortem brain cohorts demonstrate that only one-third of AD patients show hallmark disease endotypes like increased inflammation and decreased synaptic signaling. Areas of the brain less affected by AD pathology at early disease stages—such as the primary visual cortex—exhibit similar transcriptomic dysregulation as those regions traditionally affected and, therefore, may offer a view into the molecular mechanisms of AD without the associated inflammatory changes and gliosis induced by pathology. To this end, we analyzed AD patient samples from the primary visual cortex (19 EOAD, 20 LOAD) using transcriptomic signatures to identify patient clusters and disease endotypes. Interestingly, although the clusters showed distinct combinations and severity of endotypes, each patient cluster contained both EOAD and LOAD cases, suggesting that AAO may not directly correlate with the identity and severity of AD endotypes.

2022-10-12 | GSE203206 | GEO

Comparative proteomic analysis of microvescicoles and exosomes isolated from urine of medullary sponge kidney disease (MSK) versus Autosomal dominant polycystic kidney disease (ADPKD) patients.

Project description:Microvescicles (MV) and exosomes (EX) seem to be involved in the pathogenetic machinery of the autosomal dominant polycystic kidney disease (ADPKD), but, at the moment, no studies have assessed their role in medullary sponge kidney disease (MSK), a sporadic kidney malformation featuring cysts, nephrocalcinosis and recurrent renal stones. To discover their role in this disease we employed a proteomic-based research strategy.

2019-11-25 | PXD011283 | Pride

Probing sporadic and familial Alzheimer?s disease using induced pluripotent stem cells.

Project description:Our understanding of Alzheimer’s disease (AD) pathogenesis is currently limited by difficulties in obtaining live neurons from patients and the inability to model the sporadic form of AD. It may be possible to overcome these challenges by reprogramming primary cells from patients into induced pluripotent stem cells (iPSCs). We reprogrammed primary fibroblasts from two patients with familial AD (both caused by a duplication of APP1, APPDp), two with sporadic AD (sAD1, 2) and two non-demented control individuals (NDCs) into iPSC lines. Neurons from differentiated cultures were FACS-purified and characterized. Purified cultures contained >90% neurons, clustered with fetal brain mRNA samples by microarray criteria, and could form functional synaptic contacts. Virtually all cells exhibited normal electrophysiological activity. Relative to controls, iPSC-derived, purified neurons from the two APPDp patients and patient sAD2 exhibited significantly higher levels of secreted Aβ1-40, phospho-tauThr231 (pTau) and active GSK3β (aGSK3β). Neurons from APPDp and sAD2 patients also accumulated large Rab5-positive early endosomes compared to controls. Treatment of purified neurons with β-secretase inhibitors, but not g-secretase inhibitors, caused significant reductions in pTau and aGSK3β levels. These results suggest a direct relationship between APP proteolytic processing, but not Aβ, in GSK3β activation and tau phosphorylation in human neurons. Additionally, we observed that neurons with the genome of one sAD patient exhibited the phenotypes seen in familial AD samples. More generally, we demonstrate that iPSC technology can be used to observe phenotypes relevant to AD, even though it can take decades for overt disease to manifest in patients.

2012-01-06 | GSE34879 | GEO

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