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Marzetta, F.

Publications and source records attributed to Marzetta, F..

6 recordsLinked to original sources

Modelling interpretable patient-level representationsfrom structured and simple multimodal data

Patient cohort profiling increasingly includes structured views for multiple modalities, such as single-cell RNA sequencing, spatial transcriptomics or proteomics, and histology, each providing multiple subobservations per patient, including single cells, spatial spots or patches. To model such data along with simple patient-level views, current multimodal integration methods typically rely on separately precomputed summaries and fail to fully leverage information in structured views. Here we present FACTMx, a variational framework that jointly models structured and simple views to learn interpretable patient-level representations. FACTMx couples latent patient factors with subobservation clustering and per-patient component proportions, enabling direct interpretation and downstream association analyses. The framework supports different structured-view mixture assumptions, including topic- and Gaussian-structured data, while retaining modular encoder-decoder parameterisations. In simulations spanning sparse and dense dependencies and multiple noise regimes, FACTMx improved reconstruction, integration and recovery of structured components relative to previous methods. Applied to non-small cell lung cancer cohorts, FACTMx captured survival-associated latent signals linked to immune microenvironments, gene expression pathways and spatially coherent histological patterns. In a longitudinal coronary syndrome cohort, FACTMx highlighted an outcome-associated axis connected to ejection-fraction change, immune cell states, soluble mediators and cardiac injury markers. These results support joint structured-simple modelling for interpretable multimodal patient stratification.

bioinformatics↗

Identification of a unique transcriptomic signature associated with islet amyloidosis

AimsThis cross-sectional study aims to identify potential transcriptomic changes conveyed by presence of amyloid deposits in islets from pancreatic tissue obtained from metabolically profiled living donors. MethodsAfter establishing Thioflavin S as the most sensitive approach to detect islet amyloid plaques, we utilized RNA sequencing data obtained from laser capture microdissected islets to define transcriptomic effects of this pathological entity. The RNA sequencing data was used to identify differentially expressed genes by linear modeling. Further analyses included functional enrichment analysis of KEGG and Hallmark gene sets as well as a weighted gene correlation network analysis. ResultsEleven differentially expressed genes were identified in islets affected by amyloidosis. Enrichment analyses pointed to signatures related to protein aggregation diseases, energy metabolism and inflammatory response. A gene co-expression module was identified that correlated to islet amyloidosis. ConclusionAlthough the influence of underlying Type 2 diabetes could not be entirely excluded, this study presents a valuable insight into the biology of islet amyloidosis, particularly providing hints into the potential relationship between islet amyloid deposition and structural and functional proteins involved in insulin secretion. Research in contextO_ST_ABSWhat is already known about this subject?C_ST_ABSO_LIIslet amyloidosis is the only histological marker of Type 2 diabetes in the pancreas C_LIO_LIIndividuals not suffering from Type 2 diabetes can also be affected by islet amyloidosis C_LIO_LIThe clinicopathological significance of this phenomenon is still unclear C_LI What is the key question?O_LIDoes the islet transcriptome of individuals with islet amyloidosis provide explanations for the onset of this phenomenon and its pathophysiological value? C_LI What are the new findings?O_LIIslet transcriptomes of affected subjects exhibit only limited transcriptomic differences compared to unaffected ones. C_LIO_LIStructural and functional proteins involved in insulin secretion machinery may be involved in the pathophysiological sequence of amyloid formation C_LI

systems biology↗

CDK4 deletion in mice prevents fat accumulation and increases endurance capacity through activation of estrogen related receptor (ERR)driven oxidative metabolism in skeletal muscle

Cyclin-dependent kinase 4 (CDK4) canonical role is to control cell cycle progression from G1 to S phases. However, recent studies reported that CDK4 regulates energy metabolism in non-proliferating cells such as hepatocytes or adipocytes. The objective of our work is to study CDK4 function in skeletal muscle using a model of mice lacking CDK4 (cdk4-/-). By coupling treadmill running to indirect calorimetry, we show that cdk4-/- mice display improved endurance and higher capacity to use fat as fuel during exercise. Isolated muscles lacking CDK4 are more resistant to fatigue in response to repeated contractions and have increased oxidative capacity and mitochondrial content compared to cdk4+/+ muscles. Transcriptomic analysis reveals upregulation of genes controlled by the nuclear receptors estrogen-related receptors (ERRs) in cdk4-/- skeletal muscle, associated with elevated levels of the ERR co-activator PGC1a. Supporting in vivo results, C2C12 myotubes treated with a CDK4 inhibitor have increased mitochondrial oxygen consumption, PGC1 expression and ERR transcriptional activity measured by a luciferase reporter. In normal housing conditions, cdk4-/- mice show an increased basal metabolic rate and are resistant to weight gain and fat accumulation. In conclusion, our study uncovers a role for CDK4 in the control of skeletal muscle metabolism. Moreover, CDK4 inhibition may be an alternative strategy against obesity-associated metabolic disorders.

physiology↗

Multi-omics profiling of living human pancreatic islet donors reveals heterogeneous beta cell trajectories toward type 2 diabetes

Existing studies do not sufficiently describe the molecular changes of pancreatic islet beta cells leading to their deficient insulin secretion in type 2 diabetes (T2D). Here we address this deficiency with a comprehensive multi-omics analysis of metabolically profiled pancreatectomized living human donors stratified along the glycemic continuum from normoglycemia to T2D. Islet pools isolated from surgical samples by laser-capture microdissection had remarkably heterogeneous transcriptomic and proteomic profiles in diabetics, but not in non-diabetic controls. Transcriptomics analysis of this unique cohort revealed islet genes already dysregulated in prediabetic individuals with impaired glucose tolerance. Our findings demonstrate a progressive but disharmonic remodeling of mature beta cells, challenging current hypotheses of linear trajectories toward precursor or trans-differentiation stages in T2D. Further, integration of islet transcriptomics and pre-operative blood plasma lipidomics data enabled us to define the relative importance of gene co-expression modules and lipids positively or negatively associated with HbA1c levels, pointing to potential prognostic markers.

bioinformatics↗

Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion

Expanded CAG/CTG repeats underlie thirteen neurological disorders, including myotonic dystrophy (DM1) and Huntingtons disease (HD). Upon expansion, CAG/CTG repeat loci acquire heterochromatic characteristics. This observation raises the hypothesis that repeat expansion provokes changes to higher order chromatin folding and thereby affects both gene expression in cis and the genetic instability of the repeat tract. Here we tested this hypothesis directly by performing 4C sequencing at the DMPK and HTT loci from DM1 and HD patient-derived cells. Surprisingly, chromatin contacts remain unchanged upon repeat expansion at both loci. This was true for loci with different DNA methylation levels and CTCF binding. Repeat sizes ranging from 15 to 1,700 displayed strikingly similar chromatin interaction profiles. Our findings argue that extensive changes in heterochromatic properties are not enough to alter chromatin folding at expanded CAG/CTG repeat loci. Moreover, the ectopic insertion of an expanded repeat tract did not change three-dimensional chromatin contacts. We conclude that expanded CAG/CTG repeats have little to no effect on chromatin conformation.

neuroscience↗

The KZFP/KAP1 system controls transposable elements-embedded regulatory sequences in adult T cells

Transposable elements-embedded regulatory sequences (TEeRS) are subjected to early embryonic repression through sequence-specific recruitment of KRAB zinc finger proteins (KZFPs), their cofactor KAP1/TRIM28 and associated chromatin modifiers. This modulates the TEeRS-mediated regulation of gene expression in embryonic stem cells (ESCs) and leads to DNA methylation-induced silencing. However, KZFPs are broadly expressed in adult tissues, suggesting that they control TEeRS throughout life. Confirming this hypothesis, we reveal here that the KZFP/KAP1 system exerts a highly dynamic control of TEeRS in adult human CD4+ T lymphocytes. First, we observed that in these cells many TEs are still bound by KAP1, the recruitment of which is dynamically regulated upon T cell receptor stimulation. Second, we found that KAP1 depletion induces broad transcriptional alterations in T cells, with de-repression of TE-based regulatory elements leading to the illegitimate activation of nearby genes. Finally, we show that the tissue-restricted expression of KZFPs correlates with KAP1-mediated lineage-specific chromatin signatures and transcriptional repression. These data support a model where TE-targeting KZFPs and KAP1 are important regulators of gene expression in adult human cells.

genomics↗