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Corti, S.

Publications and source records attributed to Corti, S..

9 recordsLinked to original sources

A metagenomic framework for rapid Listeria monocytogenes surveillance in food production environments

Listeria monocytogenes remains a major foodborne pathogen with high mortality and costly persistence in food-processing environments. Established diagnostics rely on selective enrichment and single-colony isolation, which could introduce strong biases by favouring fast-growing strains or those more tolerant to enrichment broth inhibitors, while suppressing slow-growing, viable-but-nonculturable, and other co-occurring strains. This can obscure true pathogen diversity and may contribute to discrepancies between strains detected in food production environments and those associated with disease. To quantify the bias introduced by established culture-based diagnostics and to assess the potential advantage of metagenomics-based pathogen detection directly from the original sample matrix, we developed and evaluated a rapid nanopore sequencing-based metagenomic framework. We designed an artificial metagenomic community of several Listeria strains, comprising L. monocytogenes lineages I-III (including hypervirulent, persistent, and low-virulence strains), other Listeria spp., and a realistic background microbiome representative of food-processing environments. We then used this mock community to spike standard surveillance sponges and compared three workflows: (i) direct nanopore metagenomic sequencing of the original sample matrix, (ii) quasi-metagenomic sequencing after 4 h, 12 h, 24 h, or 48 h of selective enrichment, and (iii) ISO-based culture followed by whole-genome sequencing of a single presumptive L. monocytogenes isolate. We found that the culture-based approach recovered only a limited subset of strains, consistently underrepresenting diversity and failing to detect multi-strain contamination. These findings were reflected by the quasi-metagenomic results, where we found relative L. monocytogenes enrichment to be strain-dependent, indicating selective enrichment bias favouring specific strains. Metagenomics captured the full spectrum of spiked Listeria strains, enabling comprehensive strain-level resolution at all inoculation levels. We only observed relative enrichment of the L. monocytogenes strains by quasi-metagenomics compared with metagenomics after 48 h of selective enrichment. While driven primarily by the additional enrichment of L. innocua, these results suggest that quasi-metagenomics improves L. monocytogenes recovery only at the cost of a substantial reduction in speed. We finally showed that the sensitivity and accuracy of metagenomics could be improved by utilising different environmental sampling materials. We did not find any significant performance improvements from nanopore sequencing-based enrichment of L. monocytogenes through adaptive sampling approaches. We conclude that integrating long-read metagenomics into routine surveillance shows great promise to improve detection and source attribution in food safety systems.

microbiology↗

Electrical stimulation elicits space- and parameter-dependent spiking responses in human cortical organoids

Electrical stimulation (ES) is used to treat neuropsychiatric disorders and investigate brain dynamics, yet its effects on human cortical microcircuits remain poorly understood. Cortical organoids provide a unique platform to investigate these mechanisms in isolation from subcortical and long-range cortical inputs. Here we illustrate how cortical organoids respond to ES, identifying the response profiles of isolated cortical circuits while detailing a roadmap of how ES parameters affect the organoid spiking activity. We employed a high-density multielectrode array to record neuronal activity from cortical organoids (n=417 units in N=7 organoids) during ES, systematically varying stimulation frequency, intensity, pulse width, and charge density. By analyzing single unit spiking activity, we found that ES elicits excitatory, inhibitory, and mixed responses in 39%, 12%, and 17% of the units, respectively. On average, this response lasted 100 ms and became stable within 26 trials. The magnitude of both excitatory and inhibitory responses was maximal near the stimulation site and decayed with distance. The response magnitude was inversely correlated with pulse intensity and duration, but not with stimulation frequency and charge density. These findings demonstrate that local cortical circuits are sufficient to initiate the early excitatory phase of the canonical ES response, whose magnitude depends on ES parameters, and can sustain the excitatory phase for over 100 ms. The reduced late inhibitory phase, together with the absence of late excitatory components observed 200 ms after ES in intact adult brains in-vivo, suggests that these phases may depend on neuronal maturation or inter-area connections. Our work thus establishes cortical organoids as a framework for studying the local contributions to ES-induced activity in a developmental model of the human cortex.

neuroscience↗

Statistical Characterization of Cortical-Thalamic Dynamics Evoked by Cortical Stimulation in Mice

ObjectiveStatistical models are powerful tools for describing biological phenomena such as neuronal spiking activity. Although these models have been widely used to study spontaneous and stimulated neuronal activity, they have not yet been applied to analyze responses to electrical cortical stimulation. In this study, we present an innovative approach to characterize neuronal responses to electrical stimulation in the mouse cortex, providing detailed insights into cortical-thalamic dynamics. ApproachOur method applies Mixture Models to analyze the Peri-Stimulus Time Histogram of each neuron, predicting the probability of spiking at specific latencies following the onset of electrical stimuli. By applying this approach, we investigated neuronal responses to cortical stimulation recorded from the motor cortex, somatosensory cortex, and sensorimotor-related thalamic nuclei in the mouse brain. Main resultsThe characterization approach achieved high goodness of fit, and the model features were leveraged by applying machine learning methods for stimulus intensity decoding and classification of brain regions to which a neuron belongs given its response to the stimulus. The Random Forest model demonstrated the highest F1 scores, achieving 92.86% for stimulus intensity decoding and 84.35% for brain zone classification. SignificanceThis study presents a novel statistical framework for characterizing neuronal responses to electrical cortical stimulation, providing quantitative insights into cortical-thalamic dynamics. Our approach achieves high accuracy in stimulus decoding and brain region classification, providing valuable contributions for neuroscience research and neuro-technology applications.

neuroscience↗

C9orf72 Repeat Expansion Induces Metabolic Dysfunction in Human iPSC- Derived Microglia and Modulates Glial-Neuronal Crosstalk

The C9orf72 hexanucleotide repeat expansion mutation is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, but its cell type-specific effects on energy metabolism and immune pathways remain poorly understood. Using induced pluripotent stem cell (iPSC)-derived motor neurons, astrocytes and microglia from C9orf72 patients and their isogenic controls, we investigated metabolic changes at the single-cell level under basal and inflammatory conditions. Our results showed that microglia are particularly susceptible to metabolic disturbances. While C9orf72 motor neurons exhibited impaired mitochondrial respiration and reduced ATP production, C9orf72 microglia presented pronounced increases in glycolytic activity and oxidative stress, accompanied by the upregulation of the expression of key metabolic enzymes. These metabolic changes in microglia were exacerbated by inflammatory stimuli. To investigate how these changes affect the broader cellular environment, we developed a human iPSC-derived triculture system comprising motor neurons, astrocytes and microglia. This model revealed increased metabolic activity in all cell types and highlighted that microglia-driven metabolic reprogramming in astrocytes contributes to the vulnerability of motor neurons under inflammatory conditions. Our findings highlight the central role of microglia in driving metabolic dysregulation and intercellular crosstalk in ALS pathogenesis and suggest that targeting metabolic pathways in immune cells may provide new therapeutic avenues.

neuroscience↗

Targeted Antisense Oligonucleotide Treatment Rescues Developmental Alterations in Spinal Muscular Atrophy Organoids

Spinal muscular atrophy (SMA) is a severe neurological disease caused by mutations in the SMN1 gene, characterized by early onset and degeneration of lower motor neurons. Understanding early neurodevelopmental defects in SMA is crucial for optimizing therapeutic interventions. Using spinal cord and cerebral organoids generated from multiple SMA type I donors, we revealed widespread disease mechanisms beyond motor neuron degeneration. Single-cell transcriptomics uncovered pervasive alterations across neural populations, from progenitors to neurons, demonstrating SMN-dependent dysregulation of neuronal differentiation programs. Multi-electrode array analysis identified consistent hyperexcitability in both spinal and brain organoids, establishing altered electrical properties as a central nervous system-wide feature of pathogenesis. Early administration of an optimized antisense oligonucleotide (ASO) that restored SMN levels rescued morphological and functional deficits in spinal cord organoids across different genetic backgrounds. Importantly, this early intervention precisely corrected aberrant splicing in newly identified SMN1 targets enriched at critical nodes of neuronal differentiation. Our findings demonstrate that early developmental defects are core features of SMA pathogenesis that can be prevented by timely therapeutic intervention, providing new insights for optimizing treatment strategies.

neuroscience↗

Improved synthesis and application of an alkyne-functionalized isoprenoid analogue to study the prenylomes of motor neurons, astrocytes and their stem cell progenitors

Protein prenylation is one example of a broad class of post-translational modifications where proteins are covalently linked to various hydrophobic moieties. To globally identify and monitor levels of all prenylated proteins in a cell simultaneously, our laboratory and others have developed chemical proteomic approaches that rely on the metabolic incorporation of isoprenoid analogues bearing bio-orthogonal functionality followed by enrichment and subsequent quantitative proteomic analysis. Here, several improvements in the synthesis of the alkyne-containing isoprenoid analogue C15AlkOPP are reported to improve synthetic efficiency. Next, metabolic labeling with C15AlkOPP was optimized to obtain useful levels of metabolic incorporation of the probe in several types of primary cells. Those conditions were then used to study the prenylomes of motor neurons (ES-MNs), astrocytes (ES-As), and their embryonic stem cell progenitors (ESCs), which allowed for the identification of 54 prenylated proteins from ESCs, 50 from ES-MNs and 84 from ES-As, representing all types of prenylation. Bioinformatic analysis revealed specific enriched pathways, including nervous system development, chemokine signaling, Rho GTPase signaling, and adhesion. Hierarchical clustering showed that most enriched pathways in all three cell types are related to GTPase activity and vesicular transport. In contrast, STRING analysis showed significant interactions in two populations that appear to be cell type dependent. The data provided herein demonstrates that robust incorporation of C15AlkOPP can be obtained in ES-MNs and related primary cells purified via magnetic-activated cell sorting allowing the identification and quantification of numerous prenylated proteins. These results suggest that metabolic labeling with C15AlkOPP should be an effective approach for investigating the role of prenylated proteins in primary cells in both normal cells and disease pathologies, including ALS. O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=96 SRC="FIGDIR/small/583211v1_ufig1.gif" ALT="Figure 1"> View larger version (28K): org.highwire.dtl.DTLVardef@193cfe1org.highwire.dtl.DTLVardef@134edccorg.highwire.dtl.DTLVardef@1e81deforg.highwire.dtl.DTLVardef@56406_HPS_FORMAT_FIGEXP M_FIG C_FIG

biochemistry↗

Transcriptomic analysis of aging mouse sciatic nerve reveals early pathways leading to sarcopenia

BackgroundSarcopenia, the age-associated decline in skeletal muscle mass and strength, has long been considered a disease of muscle only, but accumulating evidence suggests that sarcopenia could originate from the neural components controlling muscles. To identify early molecular changes in the efferent nerves that may drive sarcopenia initiation, we performed a longitudinal transcriptomic analysis of the sciatic nerve in aging mice. MethodsSciatic nerve and gastrocnemius muscle were obtained from young adult, middleaged, old, and sarcopenic (5,18, 21 and 24 months old, respectively) C57BL/6J female mice (n=6 per age group). Sciatic nerve RNA was extracted and subjected to RNA sequencing (RNA-seq), with real-time quantitative reverse transcription PCR (qRT-PCR) validation of differentially expressed genes (DEGs). Functional enrichment analysis of clusters of genes associated with patterns of gene expression across age groups was performed. Sarcopenia was confirmed with qRT-PCR of previously established markers of sarcopenia onset in gastrocnemius muscle. ResultsWe detected 33 significant DEGs in sciatic nerve of 18-month-old mice compared to 5-month-old mice (absolute value of fold change > 2; false discovery rate [FDR] < 0.05) which we validated with qRT-PCR of the three top up- and down-regulated genes. Up-regulated genes were associated with circadian rhythm and the AMPK signaling pathway, while down-regulated genes were associated with biosynthesis and metabolic pathways and circadian rhythm. Strikingly, we detected a significant increase in Myog expression (log2 fold change = 18.93, FDR q-value = 1.54x10-12) in sciatic nerve of 18-month-old mice, before up-regulation in muscle was observed. We identified seven clusters of genes with similar expression patterns across groups. Functional enrichment analysis of these clusters revealed biological processes that may be implicated in sarcopenia initiation including extracellular matrix organization and circadian regulation of gene expression. ConclusionsGene expression changes in mouse peripheral nerve can be detected prior to overt clinical onset of sarcopenia. These early molecular changes we report shed a new light on biological processes that may be implicated in sarcopenia initiation and pathogenesis. Future studies will validate which of the key changes we reported have disease modifying and/or biomarker potential.

neuroscience↗

Aged human iPSC-RPE organoid cultures display hallmarks of drusen formation

Age-related macular degeneration (AMD) is among the most common causes of irreversible vision loss. Disease progression is strongly associated with age-related pathological changes of retinal pigment epithelial (RPE) cells, such as accumulation of intracellular lipid-containing cell debris, extracellular lipid-rich deposits (drusen) and collagen-rich basal laminar deposits. Current AMD models provide a limited understanding of the complex pathomechanisms, revealing the lack of adequate physiological human AMD models. In this study, we developed an in vitro model applicable for the exploration of AMD pathomechanisms and risk factors for AMD progression and drusen formation. Advanced 3D culturing technologies allow long-term cultivation of hiPSC-derived RPE organoids (RPEorg) for up to 360 days, which is the time frame necessary for the development of an AMD-like phenotype. Aged RPEorg exhibit hallmarks of AMD and age-related alterations such as increased autofluorescence, accumulation of lipid droplets, calcification, and the formation of extracellular clusters of the drusen-associated proteins such as apolipoprotein E (APOE) and tissue inhibitor of metalloproteinases 3 (TIMP3). Electron microscopy further reveals drusen-like extracellular deposits mimicking the signs of late drusen formation and AMD progression. In summary, our results demonstrate that hiPSC-derived 3D RPEorg provide a promising model to study age-associated RPE pathology and drusen formation. We show here that RPEorg are applicable for disease modelling studies and early stages of drug development and provide the opportunity to uncover inter-individual genetic and epigenetic factors that alter the course of the disease.

cell biology↗

Human stem cell-based retina-on-chip as new translational model for validation of AAV retinal gene therapy vectors

Gene therapies using adeno-associated viruses (AAVs) are amongst the most promising strategies to treat or even cure hereditary and acquired retinal diseases. However, the development of new efficient AAV vectors is slow and costly, largely because of the lack of suitable non-clinical models. By faithfully recreating structure and function of human tissues, human induced pluripotent stem cell (iPSC)-derived retinal organoids could become an essential part of the test cascade addressing translational aspects. Organ-on-Chip (OoC) technology further provides the capability to recapitulate microphysiological tissue environments as well as a precise control over structural and temporal parameters. By employing our recently developed Retina-on-chip that merges organoid and OoC-technology, we analyzed the efficacy, kinetics and cell tropism of seven first and second generation AAV vectors. The presented data demonstrate the potential of iPSC-based OoC models as the next generation of screening platforms for future gene therapeutic studies.

bioengineering↗