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Cosentino, C.

Publications and source records attributed to Cosentino, C..

12 recordsLinked to original sources

Polarization of regulatory inputs reveals structural constraints in reconstructed pathway-associated regulatory networks

Activating and inhibitory interactions jointly shape cellular regulation, yet it remains unclear whether their allocation among individual targets exhibits systematic organization beyond basic structural constraints. Here we introduce antagonistic--cooperative polarization, a target-wise principle in which the sign of each regulatory interaction is determined by the class of its target. This formulation yields a node-separable graph polarization index and decomposes departures from perfect polarization exactly into localized conflicts at targets receiving both activating and inhibitory inputs. We applied the framework to 98 pathway-associated regulatory subnetworks reconstructed from a unified signed regulatory network. Target-wise sign consistency was generally high, but the key evidence for non-random organization came from constrained null models: mixed-input targets were depleted relative to both global sign shuffling and degree-preserving directed rewiring, with depletion increasing systematically with pathway size. This association was robust to rewiring-mobility and pathway-overlap analyses, and indegree-stratified analysis identified the clearest statistically supported depletion among targets receiving exactly two signed inputs. Mixed-input organization was pathway-specific but recurrent across genes; recurrent mixed-input targets remained enriched for Cancer Gene Census genes after accounting for pathway opportunity. Mixed-input occurrences were also preferentially associated with signed feedback motifs, particularly negative feedback, whereas downstream reach was not increased. Together, these results reveal a prevalent polarized backbone punctuated by localized sites of opposing regulation whose abundance departs from expectations under complementary null models controlling for network topology, sign composition, degree structure, and source-specific regulatory output.

systems biology↗

TRMT10A deficiency and tRNA fragmentation disrupt human pancreatic β-cell identity and insulin maturation

Mutations in the tRNA-modifying enzyme TRMT10A cause a rare monogenic syndrome characterized by early-onset diabetes and neurodevelopmental defects, yet the molecular mechanisms underlying TRMT10A diabetes remain unclear. Using human TRMT10A-deficient (knockout and mutant) induced pluripotent stem cells (iPSCs) differentiated into islet-like aggregates and TRMT10A-silenced EndoC-{beta}H1 human {beta}-cells, we show that TRMT10A deficiency impairs {beta}-cell differentiation, insulin content and glucose-stimulated insulin secretion while inducing widespread transcriptional alterations. These defects are accompanied by oxidative stress, diminished antioxidant capacity, and defective proinsulin processing driven by reduced PCSK1 expression. Mechanistically, the loss of TRMT10A promotes tRNA fragmentation and the generation of fragments derived from the 5 end of tRNAGln-CTG (tDRGln-CTG) that interact with hnRNPM. Our data support the existence of a previously unrecognized hnRNPM-PTBP1 interaction in human {beta}-cells and suggest that this complex may contribute to the regulation of PCSK1 mRNA stability and/or translation. Furthermore, through its interaction with hnRNPM, tDRGln-CTG may alter the function of the complex thereby contributing to reduced PCSK1 expression, defective proinsulin processing, and impaired insulin content. Our findings link tRNA fragmentation, RNA-binding protein networks and insulin maturation, positioning TRMT10A as a critical regulator of {beta}-cell identity and function and uncovering a novel mechanism of {beta}-cell failure in the pathogenesis of diabetes.

molecular biology↗

Neural and mechanical properties of vastus lateralis and vastus medialis at different rectus femoris muscle lengths

This study investigated how altering the length of one muscle influences motor unit discharge behavior of its synergists. Eighteen participants performed isometric knee extensions at 10% and 30% of maximal voluntary contraction (MVC) with the hip joint at 90{degrees} (shortened rectus femoris, RF) and 180{degrees} (lengthened RF). High-density surface electromyograms were recorded from vastus medialis, RF and vastus lateralis, and decomposed into motor unit spike trains. Mean discharge rate and coefficient of variation of interspike interval were analyzed for tracked units in the vasti and non-tracked in the RF. While no changes were observed in RF motor units, lengthening the RF led to increased discharge rates of vasti motor units at 10% MVC, but not 30% MVC. To further explore these force-dependent changes, two further experiments were conducted. The first showed that the discharge rate at recruitment during ramp-up contractions increased with RF lengthening, but only for low-threshold vasti units. In the second, electrically evoked twitch contractions in the vasti revealed significantly reduced twitches at 180{degrees} during low-frequency, but not high-frequency stimulation. These findings collectively suggest that the force-dependent changes in the vasti motor unit discharge rates are likely driven by RF-length dependent changes in the vasti muscles contractile properties.

physiology↗

3'tRNAAsp(GTC)-derived fragment links inflammation to post-transcriptional reprogramming in chondrocytes during osteoarthritis.

ObjectiveTransfer RNA-derived fragments (tRFs) belong to an emerging class of small non-coding RNAs that dynamically respond to metabolic stressors and drive different pathological processes, yet their role in osteoarthritis (OA) remains poorly explored. We aimed to define the tRF landscape in OA and investigate the function of 3tRFAsp(GTC) in chondrocyte stress adaptation and translational control. MethodsEx vivo, cartilage specimens from OA patients (n=6) and healthy donors (n=7) were analyzed by small RNA sequencing to define disease-associated tRF signatures. In vitro, primary chondrocytes derived from OA patients were treated with lipopolysaccharide (LPS) to mimic inflammatory environment of OA, used for small RNA sequencing (n=3) and validation analysis (n=6). Functional studies in C28/I2 chondrocytes included antisense oligonucleotide-mediated 3tRFAsp(GTC) inhibition, AGO2-RNA immunoprecipitation (RIP), polysome profiling, stress granule (SG) immunofluorescence, and differential protein analysis. Computational target prediction and pathway enrichment were used to explore tRF-mediated regulatory networks. ResultsBoth OA cartilage and LPS-treated chondrocytes displayed upregulation of 3tRFAsp(GTC) and 5tRFGlu(CTC), indicating a shared inflammatory tRF signature. Predicted targets of upregulated tRFs were enriched in stress-adaptive, proteostasis, and translational control pathways, whereas downregulated tRFs modulated mitochondrial processes. Silencing 3tRFAsp(GTC) inhibited LPS-induced COX2 and MMP13 expression, prevented ER stress, and blocked SG assembly. RIP confirmed selective recruitment of 3tRFAsp(GTC) into AGO2 complexes. Polysome profiling revealed association with 40S ribosomal subunit, mediating translational arrest and influencing selective mRNA expression. Conclusion3tRFAsp(GTC) emerges as a regulator linking inflammation to translational control and SG dynamics in OA. tRFs thus could represent novel therapeutic targets in OA disease.

biochemistry↗

Role of small intronic RNAs in the crosstalk between immune cells and beta-cells during type 1 diabetes development

Small non-coding RNAs, such as microRNAs and tRNA-derived fragments, are key regulators of cellular processes, but the functions of small intronic RNAs (sinRNAs), a recently identified RNA class, remain largely unknown. Here, we report that two sinRNAs, sinR-D and sinR-T, are upregulated in pancreatic {beta}-cells of NOD mice, a well-established model of type 1 diabetes. Using in vivo RNA-tagging, we demonstrate that these sinRNAs are packaged into extracellular vesicles released by infiltrating CD4 T lymphocytes and subsequently delivered to {beta}-cells during the early stages of autoimmune attack. Functional analyses revealed that overexpression of sinR-T has little effect on {beta}-cell viability, whereas sinR-D markedly increases {beta}-cell apoptosis. This finding suggests that the transfer of sinR-D contributes to {beta}-cell destruction and the onset of type 1 diabetes. Furthermore, pull-down experiments with biotinylated sinRNAs identified Ago2, a core component of the RNA-induced silencing complex (RISC), as a binding partner of sinR-D, indicating mechanistic parallels with microRNA-mediated regulation. Collectively, our data uncover a novel role for sinRNAs as extracellularly transferred regulators of {beta}-cell fate, expanding the repertoire of small RNAs implicated in the initiation of type 1 diabetes.

molecular biology↗

Small non-coding RNA profiling reveals inflammatory and mitochondrial related changes in aging β-cells and islet macrophages

Aging is accompanied by functional decline and increased senescence of pancreatic {beta}-cells. These changes may be influenced by islet-resident macrophages (iMACs) that remodel tissue in response to environmental cues. To explore the molecular mechanisms underlying {beta}-cell aging and senescence, we profiled small non-coding RNAs (sncRNAs) in FACS-sorted {beta}-cells and iMACs from 3-, 12-, and 22-month-old mouse islets or from senescence-associated {beta}gal (SA-{beta}gal) positive {beta}-cells of 8-month-old mice. Overall, senescent {beta}-cells displayed distinct sncRNA signatures that only partially overlapped with those of aging. However, several miRNAs previously found to be deregulated in obese or diabetic conditions were modulated in both aging and senescent {beta}-cells, including upregulation of miRNAs linked to inflammation. In vitro exposure to pro-inflammatory cytokines partially reproduced these profiles. Aging also reshaped the {beta}-cell tRNA-derived fragment (tRF) pool, enhancing global mitochondrial tRF levels. Interestingly, some changes in miRNAs and tRFs were {beta}-cell specific, whereas others occurred also in other aged metabolic tissues. iMACs also showed age-related sncRNA remodeling, including upregulation of anti-inflammatory miRNAs and mitochondrial tRFs, suggesting adaptive immune reprogramming. Together, these data reveal a profound, coordinated reshaping of the sncRNA landscape in {beta}-cells and iMACs during aging, offering new insights into molecular mechanisms driving age-related islet dysfunction.

molecular biology↗

A methodological framework for assessing neural control of shoulder muscles during multi-directional isometric tasks using high-density surface electromyography.

The complex function of the shoulder relies on the coordinated activation of small and large muscles, including the deltoid, pectoralis major, trapezius, and latissimus dorsi. However, detailed knowledge of their neuromuscular control remains limited. This study aimed to develop a methodological framework to investigate the neural control of the larger superficial shoulder muscles by combining a six-degree-of-freedom load cell attached to a robotic arm with high-density surface electromyograms (HDsEMG). Six healthy participants performed isometric contractions (abduction, adduction, flexion, and extension) at 30% of maximal voluntary contraction with the shoulder positioned at 30{degrees} and 65{degrees} of lateral abduction. HDsEMGs were recorded from the four muscles and analysed at the global activation, spatial distribution of activation and motor unit levels. Global activation was quantified using averaged normalized root-mean-square (RMS) amplitude and spatial distribution using coefficient of variation of the topographic maps. Moreover, HDsEMGs were decomposed into individual motor unit spike trains using convolutive blind source separation, and motor unit behaviour was characterized by mean discharge rate and spatial distribution of motor unit action potentials (MUAPs). RMS maps revealed action-specific activation within and between muscles, with the upper trapezius active across all tasks, while the anterior, middle, and posterior deltoid, clavicular pectoralis major, and latissimus dorsi were predominantly activated during abduction, flexion, and extension. Motor unit discharge rate also showed task-dependent activity. MUAP spatial distributions further showed distinct motor unit territories within arrays, suggesting region-specific recruitment strategies across actions. In conclusion, this framework demonstrates that individual motor unit activity can be reliably measured non-invasively in the superficial shoulder muscles. The approach provides a methodological basis for novel incorporation of neural control information into biomechanical models of shoulder function.

neuroscience↗

5'tRNA-derived fragments modulate β-cell homeostasis and islet macrophage activation in type 2 diabetes

During obesity and type 2 diabetes, pancreatic {beta}-cells face chronic environmental stress, while islet-resident macrophages (iMACs) undergo metabolic reprogramming that exacerbates {beta}-cell dysfunction. Stress-induced cleavage of transfer RNAs (tRNAs) generates tRNA-derived fragments (tRFs), whose role in this context is not fully understood. We identify elevated levels of 5tRFGlu(CTC) and 5tRFGly(GCC) in {beta}-cells and iMACs from db/db mice and in islets from type 2 diabetic patients. Notably, 5tRFGlu(CTC) is also induced under prediabetic conditions and inversely correlates with insulin secretion. Lipotoxic stress triggers their production via Angiogenin-mediated cleavage. Blocking 5tRFGlu(CTC) in islets protects against {beta}-cell apoptosis and restores insulin secretion under palmitate stress. Using a {beta}-cell/macrophage co-culture system, we show that {beta}-cell contact shapes a unique macrophage phenotype (iMAC-like) that shifts upon palmitate exposure--recapitulating in vivo observations. Inhibiting 5tRFGlu(CTC) in iMAC-like cells prevents this activation switch, reduces {beta}-cell stress, and improves insulin secretion. Mechanistically, 5tRFGlu(CTC) interacts with RNA-binding proteins to regulate transcriptional and post-transcriptional pathways linked to immune activation, extracellular matrex remodeling, neurogenesis, and oxidative stress. Our study identifies 5tRFs as key mediators of islet microenvironment remodeling in diabetes, offering new insights into intercellular stress signaling in metabolic disease.

cell biology↗

Adaptations in common synaptic inputs to spinal motor neurons during grasping versus a less functional hand task

Previous evidence suggests that shared synaptic inputs across spinal motor neurons play a key role in coordinating multiple muscles during hand movements, reducing control complexity. In this study, we investigated how the nervous system modulates these common synaptic inputs during a functionally relevant grip (grasping) compared to less functionally relevant hand tasks. Seventeen participants performed three different tasks: simultaneous four-finger flexion without thumb involvement (four-finger flexion), thumb flexion, and simultaneous flexion of both fingers and thumb (grasping). For each task, subjects sustained isometric contractions at 5% and 15% of maximal voluntary contraction, while high-density surface electromyograms (HDsEMG) were recorded from the superficial extrinsic flexor muscles of the hand. Motor unit spike trains were decomposed from HDsEMG and tracked across tasks, and their mean discharge rate was calculated. Coherence between motor units was quantified within the delta, alpha, and beta bands to estimate common synaptic oscillations. At both force levels, the mean discharge rate decreased during grasping compared to four-finger flexion but increased during grasping compared to thumb flexion. Additionally, the area under the curve of coherence within the alpha band decreased by [~]20% during grasping compared to the four-finger flexion task, with no significant delta or beta bands changes. These reductions in alpha band coherence were reflected in force oscillations, showing decreased force-neural drive coupling within the alpha band and increased force steadiness during grasping compared to four-finger flexion. Our findings suggest that a functionally relevant and frequently used grip involves distinct neural control mechanisms that ultimately enhance force control.

neuroscience↗

Differential changes in the effective neural drive following new motor skill acquisition between vastus lateralis and medialis

PurposeTo investigate whether short-term learning of a new motor task is mediated by changes in common synaptic inputs to motor neurons within and between synergistic muscles. MethodsSeventeen healthy individuals performed 15 repetitions of a complex force-matching task at 10% of a maximal voluntary contraction. Two trials were selected for analysis, the one with the highest force-target error (pre-learning) and the one with the lowest (post-learning). High-density surface electromyograms recorded from vastus medialis (VM) and vastus lateralis (VL) were decomposed into their constituent motor unit spike trains, with individual motor units being tracked between trials. Motor unit discharge behavior and common synaptic oscillations across the delta, alpha, and beta bands were calculated and compared between pre- and post-learning. ResultsForce-target matching improved across trials, accompanied by a significant decrease in the coefficient of variation of the inter-spike interval (p < 0.01), while the mean discharge rate remained similar (p > 0.85). The area under the curve within delta (p < 0.003) and alpha (p < 0.004) bands decreased between trials, with no significant changes in the beta band (p > 0.05). Notably, reductions in the alpha band correlated significantly with performance improvements in VL (R = 0.81) but not in VM (R = 0.12). ConclusionThe acquisition of a new motor task is mediated by modulations in common synaptic inputs to motor units, leading to improved force control. Our findings further suggest that these changes in common synaptic inputs, particularly in the alpha band, differ between VM and VL.

neuroscience↗

A single low-dimensional neural component of motor unit activity explains force generation across repetitive isometric tasks

Previous studies suggest that low-dimensional control underlies motor unit activity, with low-frequency oscillations in common synaptic inputs serving as the primary determinant of muscle force production. In this study, we used principal component analysis (PCA) and factor analysis (FA) to investigate the relationship between low-dimensional motor unit components and force oscillations during repetitive isometric tasks with similar force profiles. We assessed the consistency of these components across trials in both individual (tibialis anterior; first dorsal interosseous) and synergistic muscles (vastus medialis, VM; vastus lateralis, VL). Participants performed 15 trials of a force-matching learning task. Three post-skill acquisition trials were selected for analysis to ensure high similarity in force profiles. Motor units were decomposed from high-density surface electromyograms, tracked across trials, and their smoothed discharge rates were decomposed into low-dimensional components using PCA and FA. Parallel analysis indicated that a single component could explain the smoothed discharge rates for the individual muscles and two components for VM-VL. Importantly, the first component explained most of the variance ([~]70%) in smoothed discharge rates across all muscles. The first motor unit component also showed significantly higher correlations with force oscillations than the second component and remained highly consistent across trials. These findings were further supported by a non-linear framework combining network- and information-theoretic tools, which revealed high motor unit network density in the first component of all muscles. Collectively, these results suggest that, during isometric contractions, motor unit activity is primarily controlled by a single dominant shared synaptic input that closely mirrors force oscillations.

neuroscience↗

A functional genomic approach to identify reference genes for human pancreatic beta cell real-time quantitative RT-PCR analysis

Exposure of human pancreatic beta cells to pro-inflammatory cytokines or metabolic stressors is used to model events related to type 1 and type 2 diabetes, respectively. Quantitative real-time PCR is commonly used to quantify changes in gene expression. The selection of the most adequate reference gene(s) for gene expression normalization is an important pre-requisite to obtain accurate and reliable results. There are no universally applicable reference genes, and the human beta cell expression of commonly used reference genes can be altered by different stressors. Here we aimed to identify the most stably expressed genes in human beta cells to normalize quantitative real-time PCR gene expression. We used comprehensive RNA-sequencing data from the human pancreatic beta cell line EndoC-{beta}H1, human islets exposed to cytokines or the free fatty acid palmitate in order to identify the most stably expressed genes. Genes were filtered based on their level of significance (adjusted P-value >0.05), fold-change (|fold-change| <1.5) and a coefficient of variation <10%. Candidate reference genes were validated by quantitative real-time PCR in independent samples. We identified a total of 264 genes stably expressed in EndoC-{beta}H1 cells and human islets following cytokine- or palmitate-induced stress, displaying a low coefficient of variation. Validation by quantitative real-time PCR of the top five genes ARF1, CWC15, RAB7A, SIAH1 and VAPA corroborated their expression stability under most of the tested conditions. Further validation in independent samples indicated that the geometric mean of ACTB and VAPA expression can be used as a reliable normalizing factor in human beta cells.

systems biology↗