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Di Gallo, M.

Publications and source records attributed to Di Gallo, M..

4 recordsLinked to original sources

REDD1 Regulates MERCS, Protein Synthesis and NMJ Stability in Fast Myofibers During Dexamethasone-Induced Muscle Wasting

Background: Glucocorticoids cause skeletal muscle atrophy preferentially affecting fast glycolytic fibers, but the mechanisms involved in this fiber selectivity is unclear. REDD1 is a glucocorticoid-induced stress protein that limits muscle protein synthesis inducing atrophy. However, it remains unknown whether REDD1 exerts myofiber type-specific effects and through which precise mechanisms it regulates protein synthesis. We investigated the role of myofiber REDD1 expression in dexamethasone (DEX)-induced muscle atrophy, with a particular focus on its involvement in mitochondria-ER contact sites (MERCS), protein synthesis, and neuromuscular junction (NMJ) integrity. Methods: We generated tamoxifen-inducible, muscle-specific REDD1 knockout mice (REDD1fl/flHSA-CreERT2) and compared them with floxed littermates (WT) in a 2x2 design (WT/KO x PBS/DEX, 7 days). We combined single-nucleus RNA sequencing, RNAscope, immunofluorescence, transmission electron microscopy, proximity ligation assay, SUnSET puromycin labelling, western blot and RT-qPCR, and AdenoFATE1-mediated MERCS disruption in C2C12 myotubes. Results: Glucocorticoid receptor and REDD1 transcripts were co-enriched in fast glycolytic fibers mostly atrophied by DEX (~20%). REDD1 deletion in myofiber drove to lower basal muscle mass and fast fiber volume but protected them from DEX-induced atrophy. DEX inhibited protein synthesis (~70%) in WT mice with no matching change in Akt/mTOR-pathway activity. In REDD1 KO mice, protein synthesis was already low and was not affected by DEX. DEX-induced REDD1 expression remodelled mitochondrial network and MERCS in a subcellular compartment-specific manner. The intermyofibrillar MERCS minimum distance shortened in both genotypes reaching pathological distances only in WT mice (WT ~28 --> ~5 nm; KO ~25 --> ~15 nm). Perinuclear MERCS and mitochondria-nuclei distances increased in WT mice only (~18 --> ~45 nm and ~130 --> ~460 nm). In WT mice only, DEX-induced alteration of the perinuclear mitochondrial network was associated with a loss of myonuclei accumulating mt-RNA and exhibiting an anabolic transcriptomic signature notably enriched in sarcomeric transcripts. These findings suggest that REDD1-dependent MERCS remodelling may regulate muscle anabolism beyond the control of mRNA translation, by shaping the myonuclear transcriptome. Finally, REDD1 localised to the NMJ and reduced endplate area during DEX treatment. Interestingly, MERCS were denser in NMJ than in myofiber body and we showed in vitro that FATE1-mediated MERCS disruption was sufficient to reduce protein synthesis and agrin-induced acetylcholine-receptor clustering demonstrating that REDD1 and MERCS are important for NMJ stabilization. Conclusions: Muscle REDD1 links the glucocorticoid response to compartment-specific mitochondrial network remodelling, protein synthesis as well as NMJ stability in fast glycolytic fibers. Our results also show that REDD1 is important for maintaining basal mitochondrial network and protein synthesis homeostasis.

cell biology↗

Cell-Hub: a graphical interface for end-to-end single-cell RNA sequencing analysis

Single-cell and single-nucleus RNA sequencing have become increasingly widespread, creating a significant demand for accessible analysis tools in research laboratories. Despite this need, the bioinformatics expertise required for such analyses remains rare. Cell-Hub addresses this gap by enabling single-cell data analysis for all researchers, regardless of computational background. Cell-Hub is a comprehensive, free, and open-source framework built on R/Shiny and distributed as a Docker image, integrating Seurat 5, CellChat 2, and Monocle 3 within a unified graphical interface. It supports all essential steps of single-cell RNA-seq analysis: data loading, quality control, normalization, clustering, multi-dataset integration, differential expression, and biomarker detection. Cell-Hub further incorporates ligand-receptor interaction inference powered by GaspouDB, a consolidated database of 11,563 mouse and 9,604 human interactions derived from CellChat, CellPhoneDB, CellTalkDB, and MultiNicheNet as well as trajectory inference via Monocle 3 and spatial transcriptomics analysis for 10X Visium datasets. All analyses produce publication-ready visualizations with flexible export options. By integrating these analytical frameworks into a single, intuitive interface requiring no programming expertise, Cell-Hub represents a significant step toward democratizing single- cell genomics for the broader research community.

bioinformatics↗

c-MAF transduces motor neuron firing to sustain fast-glycolytic myofibers and neuromuscular junctions

This study examined how motoneuron activity influences transcription factor binding in mouse fast glycolytic Myh4+ muscle fibers. Single nucleus multiomics of innervated versus denervated tibialis anterior muscles revealed altered chromatin accessibility: SIX and c-MAF binding sites decreased while JUN, FOS, and RUNX1 sites increased in denervated Myh4+ myonuclei. c-MAF showed strong nuclear enrichment after 100 Hz stimulation and periods of increased motoneuron activity but was absent following denervation, establishing it as a primary readout of fast motoneuron firing. Genome-wide analysis demonstrated that c-MAF binding site spacing encodes functionally distinct muscle gene programs. Analysis of constitutive and inducible skeletal muscle-specific c-Maf mutants revealed that c-MAF loss caused region-specific MYH4+ fiber atrophy, MYH1/MYH2 fiber type shifts resembling ALS G93A mouse phenotypes, and progressive neuromuscular junction fragmentation with increased motoneuron terminal sprouting and ectopic reinnervation. These findings establish c-MAF as a critical mediator linking motoneuron activity to muscle gene regulation, fiber integrity, and neuromuscular junction maintenance in fast glycolytic fibers.

physiology↗

SIX1-dependent myofiber typology and metabolism controls muscle hypertrophy

The different types of muscle fibres respond in a specific way to hypertrophy or atrophy. The mechanisms underlying these heterogeneous adaptations remain poorly understood. Using single-nucleus RNA sequencing, we propose that fast glycolytic fibres show genetic limitations to hypertrophy induced by mechanical overload. We show that a prior fibre transition, achieved by reducing SIX1 protein expression (hypomorphism), enhances and accelerates overload-induced hypertrophy, bypassing the genetic limitations of fast glycolytic fibres. In contrast and unexpectedly, Six1 knockout in myofibers abolished overload-induced hypertrophy and instead caused atrophy of IIb/IIx fibers, despite the induction of a strong slow oxidative phenotype. In particular, Six1 deletion leads to metabolic defects caused by inhibition of glycolysis, AMPK and mitochondrial biogenesis. Our findings highlight the critical role of SIX1/AMPK/glycolysis-dependent aerobic metabolism in muscle growth and suggest that fibre type transitions, coupled with preserved metabolic function, may optimise hypertrophic responses.

physiology↗