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Maggioni, M.

Publications and source records attributed to Maggioni, M..

4 recordsLinked to original sources

Probabilistic Cardiac Digital Twins for Robust Patient-Specific Modeling

Uncertainty quantification (UQ) in computational heart models is essential for reliable cardiac digital twins (DTs) in personalized medicine, yet remains challenging. Traditional Monte Carlo and stochastic Galerkin methods often become impractical in the high-dimensional, nonlinear state variable and parameter spaces of cardiac electrophysiology and mechanics. This article introduces a framework for learning a joint probability density over cardiac observables and model parameters, enabling the characterization of statistical dependencies across a large number of variables in patient-specific cardiac DTs. By sampling from this density and conditioning on available data, useful predictive distributions can be constructed, allowing uncertainty to be propagated through the model and quantified in terms of variability. Conditional regression can then be performed directly on this learned density, enabling systematic exploration of interdependencies among observables for both predictive inference and model design. The statistical methodology adopts a geometry-aware generative learning framework, recently introduced by the authors, that decouples the learning of data geometry from sampling. First it identifies a low-dimensional latent representation that captures the intrinsic structure of the data and its multiscale geometric features. A stochastic differential equation is then formulated directly in the low-dimensional latent space to generate samples efficiently; these are subsequently mapped back to the high-dimensional space of cardiac states and parameters through a smooth lifting operator. We demonstrate the approach on a ventricular arrhythmia prediction benchmark, where the learned joint probability density enables the construction of predictive distributions over key parameters (e.g., conductivities, fibrosis patterns) through sampling and conditioning. This enables uncertainty to be propagated and quantified through sampling and conditioning on the learned joint density, with substantially fewer model evaluations than conventional UQ methods.

bioengineering↗

Artificial intelligence as a ploy to delve into the intricate relationship between genetics and mitochondria in MASLD patients

Background and AimsMitochondrial (mt-) dysfunction is a hallmark of progressive MASLD. MtDNA copy number (mtDNA-CN) and cell-free circulating mtDNA (ccf-mtDNA), which reflect mt-mass and mt-dysfunction, respectively, are gaining attention as non-invasive disease biomarkers. We previously demonstrated that PNPLA3/MBOAT7/TM6SF2 deficiency in HepG2 cells increased mt-mass, mtDNA-CN and ccf-mtDNA. This study furtherly explored mt-biogenesis, function and mt-biomarkers in biopsied MASLD patients from a Discovery (n=28) and a Validation (n=824) cohort, stratified by the number of risk variants (NRV=3). We took advantage of artificial intelligence (AI) to develop new risk scores, predicting MASLD evolution by integrating anthropometric and genetic data (Age, BMI, NRV) with mt-biomarkers. MethodsHepatic mt-morphology and dynamics were assessed by TEM, IHC and gene expression. mtDNA-CN and ccf-mtDNA were measured in PBMCs and serum samples. GPT-4 was employed as AI tool to support the construction of novel risk scores for MASLD progressive forms (MASH, fibrosis and HCC). ResultsIn the Discovery cohort, NRV=3 patients showed the highest mt-mass and significant mt-morphological changes (i.e. membranes rupture). An elevated PGC-1, OPA1, DRP1 and PINK1, markers of mt-biogenesis, fusion and fission were found in these patients, supporting an enhanced mt-dynamics. However, PRKN protein levels were reduced, suggesting a premature block of mitophagy. In the Validation cohort, PGC-1 mRNA levels and mtDNA-CN were significantly higher in NRV=3 compared to patients with 1,2 or no variants. Circulating mtDNA-CN and ccf-mtDNA were augmented in NRV=3 patients and correlated with genetics and MASLD severity at multivariate analysis, supporting that both may independently modulate mt-dynamics and activity. By exploiting rsGPT-4 we then optimized the combination of non-invasive variables to get prediction models named Mitochondrial, Anthropometric, and Genetic Integration with Computational intelligence ("MAGIC-") for assessing MASH, fibrosis, and HCC, respectively. The MAGIC-MASH and MAGIC-Fib models showed AUCs of 73% and 76% in detecting MASH and fibrosis >1. Of note, MAGIC-HCC achieved an AUC of 86% (95% CI: 0.823-0.885), with 78.6% sensitivity and 81.5% specificity thus resulting the best score for the desired outcome. ConclusionsmtDNA-CN and ccf-mtDNA may have pathological and prognostic significance in MASLD patients, especially in those genetically-predisposed.

genetics↗

Serum mitochondrial bioenergetics as fingerprint of the hepatic one: how to monitor genetic MASLD

Background & AimsMetabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) pathogenesis is shaped by genetics and mitochondrial dysfunction. Recently, we demonstrated that the co-presence of patatin- like phospholipase domain-containing 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2) and membrane bound o-acyltransferase domain-containing 7 (MBOAT7) polymorphisms predisposes to disease progression in MASLD patients and that their deletion contributes to mitochondrial (mt) maladaptation in an in- vitro model. In this work we deepened the impact of genes silencing on mitochondrial dynamism. Then we restored TM6SF2 and/or MBOAT7 wild-type (WT) proteins in the in-vitro model to evaluate the rescue of organelles morphology/function. Finally, we compared hepatic and peripheral mt-bioenrgetics in MASLD patients carrying PNPLA3, MBOAT7 and/or TM6SF2 loss-of-function variations. MethodsWT proteins were overexpressed through lentiviral transfection, mt-respiration was assessed by Seahorse. ResultsThe restore of MBOAT7 and/or TM6SF2 wild-type proteins resulted in the assembly of spaghetti- shaped mitochondria with improved OXPHOS capacity. Mitochondrial activity was assessed in liver biopsies and peripheral blood mononuclear cells of biopsy-proven (n=44;Discovery cohort) and noninvasively assessed (n=45;Fibroscan-MASLD cohort) MASLD patients stratified according to the presence of the 3 at-risk variants alongside in unrelated liver disease patients (n=45;Unrelated liver disease cohort). In the Discovery cohort, the hepatic bioenergetic profile fully reflecting the circulating one, was impaired in carriers of the risk variants, more so when in combination. We confirmed the lowered serum respirometry in the Fibroscan-MASLD cohort. Finally, the circulating respiration did not change in unrelated liver disease patients, thus demonstrating that it was specifically impaired in MASLD. ConclusionsThese results boosted the relevance of mitochondrial circulating respirometry to outline genetically-based MASLD.

genetics↗

Network Analysis Of Inflammatory Bowel Disease Reveals PTPN2 As New Monogenic Cause Of Intestinal Inflammation

BACKGROUND & AIMSGenome-wide association studies (GWAS) have uncovered multiple loci associated with inflammatory bowel disease (IBD), yet delineating functional consequences is complex. We used a network-based approach to uncover traits common to monogenic and polygenic forms of IBD in order to reconstruct disease relevant pathways and prioritize causal genes.\n\nMETHODSWe have used an iterative random walk with restart to explore network neighborhood around the core monogenic IBD cluster and disease-module cohesion to identify functionally relevant GWAS genes. Whole exome sequencing was used to screen a cohort of monogenic IBD for germline mutations in top GWAS genes. One mutation was identified and validated by a combination of biochemical approaches.\n\nRESULTSMonogenic IBD genes clustered siginificantly on the molecular networks and had central roles in network topology. Iterative random walk from these genes allowed to rank the GWAS genes, among which 14 had high disease-module cohesion and were selected as putative causal genes. As a proof of concept, a germline loss of function mutation was identified in PTPN2, one of the top candidates, as a novel genetic etiology of early-onset intestinal autoimmunity. The mutation abolished the catalytic activity of the enzyme, resulting in haploinsufficiency and hyper-activation of the JAK/STAT pathway in lymphocytes.\n\nCONCLUSIONSOur network-based approach bridges the gap between large-scale network medicine prediction and single-gene defects and underscores the crucial need of fine tuning the JAK/STAT pathway to preserve intestinal immune homeostasis. Our data provide genetic-based rationale for using drugs targeting the JAK/STAT pathway in IBD.

immunology↗