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RNA sequencing of dystrophin- and utrophin-deficient HeLa cells reveals overlapping transcriptomic alterations

ABSTRACT: CRISPR/Cas9 and iRNA approaches were used to knock-out and knock-down expression of the dystrophin (DMD) and utrophin (UTRN) genes. RNA-sequencing analyses revealed overlapping transcriptomic alterations in HeLa cell lines relating to the observed phenotypic abnormalities, including increased membrane permeability and intracellular calcium levels, aggregation of mitochondria, elevated reactive oxygen species, increased cyto- and genotoxicity, and apoptosis.

ORGANISM(S): Homo sapiens

PROVIDER: GSE289357 | GEO | 2026/01/27

REPOSITORIES: GEO

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	GSE289357_All_samples_raw_counts.csv.gz	Csv
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	filelist.txt	Txt

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RNA sequencing of HSkM myotubes deficient in DMD, full-length dystrophin (DP427) and utrophin reveals common transcriptomic alterations

Project description:iRNA approaches were used to knock down the expression of dystrophin (DMD), including its full-length isoform DP427, and utrophin (UTRN) genes. Specifically, iRNA-mediated knockdown of both DMD (full-length dystrophin DP427) and UTRN was performed in HSkM myotubes. It is known that the shorter dystrophin isoform DP71 compensates for full-length dystrophin DP427 in the early stages of myofiber differentiation in cell models of Duchenne muscular dystrophy. Accordingly, DP427-deficient and DP71/DP427-deficient HSkM myotubes exhibit distinct changes in the expression of genes involved in membrane integrity and cytoskeletal functions. RNA-sequencing analyses revealed overlapping transcriptomic alterations in these HSkM cell lines, which corresponded to observed phenotypic abnormalities such as increased membrane permeability and intracellular calcium levels, mitochondrial aggregation, elevated reactive oxygen species (ROS), enhanced cyto- and genotoxicity, and induction of apoptosis.

2026-01-27 | GSE303672 | GEO

Dystrophin-deficient and dystrophin and utrophin double-deficient mice crossed with mice with full-length hDMD genes

Project description:Crossing of hDMD mice that contain the full-length 2.3 Mb hDMD gene were crossed with dystrophin-deficient mdx mice and dystrophin and utrophin double-deficient mdx x utrn-/- mice resulted in a full rescue of the dystrophic features of these mice, as concluded from histological analysis. Analysis on Affymetrix gene chips demonstrated that also expression profiles of the dystrophic mice were normalized by crossing with transgenic hDMD mice. This confirms the full functionality of the hDMD transgene in mice. Keywords: disease state analysis

2007-12-13 | GSE6790 | GEO

Transcription profiling of mouse dystrophin-deficient and dystrophin and utrophin double-deficient animalse crossed with mice with full-length hDMD genes

2008-06-15 | E-GEOD-6790 | biostudies-arrayexpress

The effect of utrophin on the electrophysiological properties of DMD hiPSC-derived cardiomyocytes

Project description:DMD is a genetic disease, which leads to muscle weakness and cardiomyopathy. The latter remains incurable, being the main cause of death in DMD, therefore new therapeutic strategies are being sought to provide effective treatment. One of them considers upregulation of utrophin, a protein structurally and functionally homologous to dystrophin. In this study proteomic analysis of dystrophin-deficient and both dystrophin- and utrophin-deficient hiPSC-CM indicated on considerable differences in terms of contraction-related mechanisms. We thus investigated the role of utrophin in the maintenance of electrophysiological properties of DMD hiPSC-CM using the cells with additional utrophin deficiency and with utrophin upregulation. Obtained results indicated on disturbance of calcium handling in DMD hiPSC-CM, even more pronounced in DMD/UTRN KO hiPSC-CM and increased values of AHP in DMD hiPSC-CM. Utrophin upregulation improved both calcium oscillations and AHP values. Our findings highlight utrophin as important in the maintenance of the electrophysiological properties of DMD hiPSC-CM.

2024-06-20 | PXD044407 | Pride

RNA sequencing of dystrophin- and utrophin-deficient HeLa cells reveals overlapping transcriptomic alterations

Project description:RNA sequencing of dystrophin- and utrophin-deficient HeLa cells reveals overlapping transcriptomic alterations

| PRJNA1222773 | ENA

Microarray analysis of mdx mice expressing high levels of utrophin: therapeutic implications for DMD

Project description:Duchenne Muscular Dystrophy (DMD) is a fatal muscle wasting disorder caused by dystrophin deficiency. Previous work suggested that increased expression of the dystrophin-related protein utrophin in the mdx mouse model of DMD can prevent dystrophic pathophysiology. Physiological tests showed that the transgenic mouse muscle functioned in a way similar to normal muscle. More recently, it has become possible to analyse disease pathways using microarrays, a sensitive method to evaluate the efficacy of a therapeutic approach. We thus examined the gene expression profile of mdx mouse muscle compared to normal mouse muscle and compared the data with that obtained from the transgenic line expressing utrophin. The data confirm that the expression of utrophin in the mdx mouse muscle results in a gene expression profile virtually identical to that seen for the normal mouse. This study confirms that a strategy to up-regulate utrophin is likely to be effective in preventing the disease. Keywords: Global gene expression profile

2008-04-23 | GSE7187 | GEO

Non-steroidal mineralocorticoid receptor antagonism by finerenone is sufficient to improve function in preclinical muscular dystrophy

Project description:The objective of this study was to test the novel non-steroidal mineralocorticoid receptor antagonist (MRA) finerenone as a monotherapy in a preclinical Duchenne muscular dystrophy (DMD) model. Microarray was used to detail gene expression differences in ventricular heart tissue from finerenone-treated dystrophin-deficient, utrophin-haploinsufficient Het (utrn+/−; mdx) mice versus untreated Het mice.

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Transcription profiling of mouse mdx animals expressing high levels of utrophin therapeutic implications for DMD

2008-06-15 | E-GEOD-7187 | biostudies-arrayexpress

Microtubule binding distinguishes dystrophin from utrophin.

Project description:Dystrophin and utrophin are highly similar proteins that both link cortical actin filaments with a complex of sarcolemmal glycoproteins, yet localize to different subcellular domains within normal muscle cells. In mdx mice and Duchenne muscular dystrophy patients, dystrophin is lacking and utrophin is consequently up-regulated and redistributed to locations normally occupied by dystrophin. Transgenic overexpression of utrophin has been shown to significantly improve aspects of the disease phenotype in the mdx mouse; therefore, utrophin up-regulation is under intense investigation as a potential therapy for Duchenne muscular dystrophy. Here we biochemically compared the previously documented microtubule binding activity of dystrophin with utrophin and analyzed several transgenic mouse models to identify phenotypes of the mdx mouse that remain despite transgenic utrophin overexpression. Our in vitro analyses revealed that dystrophin binds microtubules with high affinity and pauses microtubule polymerization, whereas utrophin has no activity in either assay. We also found that transgenic utrophin overexpression does not correct subsarcolemmal microtubule lattice disorganization, loss of torque production after in vivo eccentric contractions, or physical inactivity after mild exercise. Finally, our data suggest that exercise-induced inactivity correlates with loss of sarcolemmal neuronal NOS localization in mdx muscle, whereas loss of in vivo torque production after eccentric contraction-induced injury is associated with microtubule lattice disorganization.

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Transcription profiling of extraocular, hindlimb and cardiac muscles from dKO and MDX mice

Project description:Comparison by expression profiling of tissue from dKO (utrophin/dystrophin-deficient) and MDX mice at 8 weeks of age. Independent triplicate analyses/strain were done for extraocular, hindlimb, and cardiac muscle.

2007-12-04 | E-GEOD-1463 | biostudies-arrayexpress

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