Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer’s Disease

Antonell, Anna; Lladó, Albert; Castilla, Joaquı́n; Sanfeliu, Coral; Casserras, Teresa; Rami, Lorena; Muñoz-García, Cristina; Dangla-Valls, Adrià; Balasa, Mircea; Boya, Patricia; Kalko, Susana G.; Molinuevo, José Luís

doi:10.1007/s12035-015-9483-9

Cited by 16 publications

(10 citation statements)

References 41 publications

(47 reference statements)

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“…GLS (glutaminase) was linked with neuroinflammation in brain diseases [75], but this gene may be involved with neuroinflammation in sCJD. Alteration in GNB5 was responsible for advancement of hyperactivity disorder [76], but mutation in this gene may be identified with development of sCJD. Enriched genes such as PRKCB (protein kinase C beta) [77], SNAP25 [78], CALM3 [79], ATP6V0C [80] and SST (somatostatin) [81] were important for pathogenesis of Alzheimer’s disease, but this gene may be linked with progression of sCJD.…”

Section: Discussionmentioning

confidence: 99%

Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses

Vastrad¹,

Vastrad²,

Kotturshetti³

2020

Preprint

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Sporadic Creutzfeldt-Jakob disease (sCJD) is neurodegenerative disease also called prion disease linked with poor prognosis. The aim of the current study was to illuminate the underlying molecular mechanisms of sCJD. The mRNA microarray dataset GSE124571 was downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were screened. Pathway and GO enrichment analyses of DEGs were performed. Furthermore, the protein-protein interaction (PPI) network was predicted using the IntAct Molecular Interaction Database and visualized with Cytoscape software. In addition, hub genes and important modules were selected based on the network. Finally, we constructed target genes - miRNA regulatory network and target genes - TF regulatory network. Hub genes were validated. A total of 891 DEGs 448 of these DEGs presented significant up regulated, and the remaining 443 down regulated were obtained. Pathway enrichment analysis indicated that up regulated genes were mainly linked with glutamine degradation/glutamate biosynthesis, while the down regulated genes were involved in melatonin degradation. GO enrichment analyses indicated that up regulated genes were mainly linked with chemical synaptic transmission, while the down regulated genes were involved in regulation of immune system process. hub and target genes were selected from the PPI network, modules, and target genes - miRNA regulatory network and target genes - TF regulatory network namely YWHAZ, GABARAPL1, EZR, CEBPA, HSPB8, TUBB2A and CDK14. The current study sheds light on the molecular mechanisms of sCJD and may provide molecular targets and diagnostic biomarkers for sCJD.

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Section: Discussionmentioning

confidence: 99%

Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses

Vastrad¹,

Vastrad²,

Kotturshetti³

2020

Preprint

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“…Regarding transcriptomics, previous studies explored blood gene expression in patients with AD with the objective of finding a common signature that could help identifying those individuals at risk of AD. A differential expression profile has been observed not only when comparing AD to controls [[59], [60], [61], [62], [63], [64], [65], [66]], or MCI to controls [64], but also when comparing rapidly progressing AD patients to slowly progressing patients [67], and patients with AD to patients with vascular dementia [61]. Those differentially expressed genes were grouped according to biological functions such as inflammation [60,68,69], immune response [61,65], cell cycle and apoptosis [61,65,68,69], gene expression [65,68], cytoskeleton [59,65], and interaction with the extracellular matrix [59,70].…”

Section: Discussionmentioning

confidence: 99%

Multi-omics signature of brain amyloid deposition in asymptomatic individuals at-risk for Alzheimer's disease: The INSIGHT-preAD study

et al. 2019

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BackgroundOne of the biggest challenge in Alzheimer's disease (AD) is to identify pathways and markers of disease prediction easily accessible, for prevention and treatment. Here we analysed blood samples from the INveStIGation of AlzHeimer's predicTors (INSIGHT-preAD) cohort of elderly asymptomatic individuals with and without brain amyloid load.MethodsWe performed blood RNAseq, and plasma metabolomics and lipidomics using liquid chromatography-mass spectrometry on 48 individuals amyloid positive and 48 amyloid negative (SUVr cut-off of 0·7918). The three data sets were analysed separately using differential gene expression based on negative binomial distribution, non-parametric (Wilcoxon) and parametric (correlation-adjusted Student't) tests. Data integration was conducted using sparse partial least squares-discriminant and principal component analyses. Bootstrap-selected top-ten features from the three data sets were tested for their discriminant power using Receiver Operating Characteristic curve. Longitudinal metabolomic analysis was carried out on a subset of 22 subjects.FindingsUnivariate analyses identified three medium chain fatty acids, 4-nitrophenol and a set of 64 transcripts enriched for inflammation and fatty acid metabolism differentially quantified in amyloid positive and negative subjects. Importantly, the amounts of the three medium chain fatty acids were correlated over time in a subset of 22 subjects (p < 0·05). Multi-omics integrative analyses showed that metabolites efficiently discriminated between subjects according to their amyloid status while lipids did not and transcripts showed trends. Finally, the ten top metabolites and transcripts represented the most discriminant omics features with 99·4% chance prediction for amyloid positivity.InterpretationThis study suggests a potential blood omics signature for prediction of amyloid positivity in asymptomatic at-risk subjects, allowing for a less invasive, more accessible, and less expensive risk assessment of AD as compared to PET studies or lumbar puncture.FundInstitut Hospitalo-Universitaire and Institut du Cerveau et de la Moelle Epiniere (IHU-A-ICM), French Ministry of Research, Fondation Alzheimer, Pfizer, and Avid.

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“…Autophagy is essential for proper retinal development and vision [ 5 , 6 ], and dysregulation of this process is implicated in many retinal pathologies (for a review of studies of autophagy in the visual system, see [ 7 ]). As with any emerging field of research, the rate of progress in autophagy research is dependent on the availability of robust tools that are applicable to different biological conditions and experimental settings.…”

Section: The Retina An Ideal Model For the Study Of Autophagy In mentioning

confidence: 99%

Standard Assays for the Study of Autophagy in the Ex Vivo Retina

Gómez‐Sintes

Villarejo‐Zori

Serrano-Puebla

et al. 2017

Cells

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Autophagy is a catabolic pathway that mediates the degradation and recycling of intracellular components, and is a key player in a variety of physiological processes in cells and tissues. Recent studies of autophagy in the eye suggest that this pathway is fundamental for the preservation of retinal homeostasis. Given its accessible location outside the brain, the retina is an ideal organ in which to study the central nervous system and a wide range of neuronal processes, from development to neurodegeneration. Here we review several methods used to assess autophagy in the retina in both physiological and pathological conditions.

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Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer’s Disease

Cited by 16 publications

References 41 publications

Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses

Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses

Multi-omics signature of brain amyloid deposition in asymptomatic individuals at-risk for Alzheimer's disease: The INSIGHT-preAD study

Standard Assays for the Study of Autophagy in the Ex Vivo Retina

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