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Prehn, J.

Publications and source records attributed to Prehn, J..

4 recordsLinked to original sources

α-Synuclein impairs mitochondrial function and alters cryptochrome regulation in the substantia nigra

Dopaminergic neurons in the substantia nigra pars compacta are key targets of -synuclein pathology and neurodegeneration in Parkinson's disease (PD). It is thought that pathological accumulation of -synuclein significantly contributes to nigral neuronal dysfunction and ensuing neuronal demise. In this study, we further assessed this possibility and interrogated the role of -synuclein burden in compromising neuronal function and altering physiological neuronal pathways. In particular, we focused on nigral mitochondrial impairment and disruption of circadian regulatory pathways triggered by sustained -synuclein expression. Using an in vivo AAV-mediated model, we show that -synuclein accumulation over a period of 12 weeks is associated with mitochondrial complex I and IV deficits and leads to dopaminergic cell loss. Proximity ligation assays revealed association of both total and phosphorylated -synuclein with mitochondrial proteins at a time (between 4 and 12 weeks) that paralleled the development of mitochondrial dysfunction. Spatial transcriptomic analysis of the substantia nigra identified coordinated alterations in genes involved in mitochondrial, metabolic, and circadian pathways, including increased expression of circadian-associated genes such as Nr1d1, Nr1d2, Cry2, Arntl2, and Csnk1e. At the protein level, -synuclein overexpression was associated with a differential shift in cryptochrome protein expression, characterized by reduced CRY1 and increased CRY2. Data provide evidence of a specific window of time during which sustained -synuclein burden results in direct -synuclein-mitochondria interactions and nigral mitochondrial damage. During the same time period, a specific remodeling of molecular clock components occurs, providing a potential new mechanism contributing to metabolic and mitochondrial dysregulations and, ultimately, neuronal injury and degeneration.

neuroscience↗

Spatiotemporal dynamics of Mcl-1 abundance and its influence on apoptosis susceptibility

The Bcl-2 protein family defines cellular competence for mitochondrial outer membrane permeabilization (MOMP) and apoptotic cell death. In proliferating cells, the Bcl-2 family member Mcl-1 accumulates across the cell cycle and confers trans-mitotic resistance to extrinsic apoptosis. We show here that Mcl-1, but not Bcl-xL, additionally undergoes a coordinated redistribution from the cytosol to mitochondria, concomitant with its over-proportional accumulation late in the cell cycle. Live-cell monitoring of Mcl-1 dynamics at single-cell resolution, combined with mathematical modelling, enabled us to quantify that Mcl-1 redistribution substantially contributes to elevating MOMP thresholds. Furthermore, we found that Mcl-1 accumulation and redistribution act concomitantly but independently to increase MOMP thresholds as cells approach mitosis and this elevated resistance is reset in daughter cells after division. Notably, heterogeneities in Mcl-1 abundance and subcellular distribution are pronounced even among isogenic cells within the same cell-cycle phase, and thus contribute to substantial cell-to-cell variability in MOMP susceptibility. Analysis of colorectal cancer tissue samples showed that variability in Mcl-1 expression and distribution is likewise prominent between cells in patient tumors and were predicted to drive intra-tumour heterogeneity in responses to treatments that induce MOMP. Overall, we demonstrate how changes in Mcl-1 amounts and localisation integrate with cell-cycle progression to modulate apoptotic susceptibility, thereby shaping cell-fate outcomes and contributing to cell-to-cell heterogeneities in death decision making.

cell biology↗

sncRNAP: Prediction and profiling of full sncRNA repertoires from sRNAseq data

MotivationNon-coding RNAs (ncRNAs), which include long non-coding RNAs (lncRNAs) and small non-coding RNAs (sncRNAs), have been shown to play essential roles in various biological processes. Over the past few years, a group of sncRNA identification tools have been developed but none has shown the capacity to fully profile and accurately identify those that are differentially expressed in control vs treated samples. Therefore, a tool that fully profiles and identifies differentially expressed sncRNAs in group comparisons is required. ResultsWe developed sncRNAP, a Nextflow pipeline for the profiling and identification of differentially abundant sncRNAs from sRNAseq datasets. sncRNAP primary use case is the comparison of multiple small RNA-seq datasets belonging to two conditions such as the comparison of treatment (T) and control (C) cohorts. sncRNAP can be used to analyze human, mouse, and rat datasets. The pipeline carries out all the steps required to assess raw sequencing data, performs differential gene expression (DE) analysis, profiles sncRNAs in each sample, and outputs TXT, PDF, CSV, and interactive HTML files for the quality score and the top identified sncRNA candidates. We verified sncRNAP on publicly available sRNAseq datasets in chronic hepatitis-infected liver tissue and pancreatic ductal adenocarcinoma (PDAC) datasets. Our results support the identification of Val[C/A]AC in hepatitis patients and miR135b in PDAC as potential disease biomarkers. Furthermore, we applied sncRNAP on mouse samples from control and Opa1 mouse mutants and identified AspGTC, ValAAC, SerTGA, and AspGTC as the top DE tsRNAs. In addition, sncRNAP identified mmu-miR-136-5p, mmu-miR-10b-5p, mmu-miR-351-5p, and mmu-miR-6390 as the top DE miRNA candidates.

bioinformatics↗

Potent and lasting seizure suppression by systemic delivery of antagomirs targeting miR-134 timed with blood-brain barrier disruption

RNA therapies such as oligonucleotides (OGNs) offer precision treatments for a variety of neurological diseases, including epilepsy but their deployment is hampered by the blood brain barrier (BBB). Here we used brain imaging and assays of serum proteins and tracer extravasation, to determine that BBB disruption occurring after status epilepticus in mice was sufficient to permit passage of systemically-injected antisense OGNs targeting microRNA-134 (Ant-134) into the brain parenchyma. A single intraperitoneal injection of Ant-134 two hours after status epilepticus in mice resulted in potent suppression of spontaneous recurrent seizures, reaching a 99.5% reduction during recordings at three months. The duration of spontaneous seizures, when they occurred, was also reduced in Ant-134-treated mice. These studies indicate that systemic delivery of Ant-134 reaches the brain and produces disease-modifying effects after systemic injection in mice when timed with BBB disruption and may be a clinically-viable approach for this and other disease-modifying microRNA therapies.

neuroscience↗