C2C12 expressing desmin: WT vs Mutations R406W and I451M
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ABSTRACT:
PROVIDER: PRJNA769725 | ENA |
REPOSITORIES: ENA
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Project description:C2C12 cell lines were genetically engineered to stably express WT human Desmin or the Desmin mutant R406W or I451M. Non-modified C2C12 cells were used as control. The goal was to determine the effect of different desmin mutation on the gene expression in a myoblast cell line.
2021-10-09 | GSE185589 | GEO
Project description:ETFDH (electron transfer flavoprotein ubiquinone oxidoreductase) is a 64 kDa protein monomer located in the inner mitochondrial membrane, in charge of transferring the electrons received from the electron transfer flavoprotein ETF to the Coenzyme Q (Q). Pathological mutations in ETFDH lead to Multiple Acyl-CoA Dehydrogenase Deficiency (MADD; OMIM #231680). C2C12 cells lacking ETFDH were analysed by TMT analysis and compared to wt cells.
2023-10-24 | PXD041825 | Pride
Project description:LMNA mutation R482L cause classical familial partial lipodystrophy of Dunnigan type (FPLD2). FPLD is a severe metabolic disorder that often leads to cardiovascular and skeletal muscle complications. How LMNA mutations affect functional properties of skeletal muscles is still not understood. In the present project we investigated the LMNA-R482L mutation-specific alterations in mouse C2C12 line of myoblasts using single cell RNA sequencing (scRNA-seq). We showed the heterogeneity of C2C12 myoblasts cell line prior the differentiation, and compositional and transcriptional changes in LMNA-R482L C2C12 myoblasts comparing to LMNA-WT.
2025-02-02 | GSE260946 | GEO
Project description:Desmin is a cytoskeletal protein in muscle involved in integrating cellular space and transmitting forces. In this study we sought to determine the effects of desmin deletion on skeletal muscle at the transcriptional level across many pathways of muscle physiology. RNA was isolated from the TA muscle of mice of two genotypes (wildtype (WT) and desmin knockout (KO)) and two ages (7-9 weeks (Adult) and 12-14 months (Aged)). Numbers per group are as follows: WT_Adult (5), WT_Aged (5), KO_Adult (5), KO_Aged (4).
2012-07-10 | E-GEOD-34388 | biostudies-arrayexpress
Project description:Desmin, the major intermediate filament (IF) protein in muscle cells, interlinks neighboring myofibrils and connects the whole myofibrillar apparatus to myonuclei, mitochondria, and the sarcolemma. However, desmin is also known to be enriched at postsynaptic membranes of neuromuscular junctions (NMJs). The pivotal role of the desmin IF cytoskeletal network is underscored by the fact that over 100 mutations of the human DES gene cause hereditary and sporadic myopathies and cardiomyopathies. A subgroup of human desminopathies comprises autosomal recessive cases resulting in complete abolition of desmin protein. In these patients, who display a more severe phenotype than the autosomal dominant cases, it has been reported that some individuals also suffer from a myasthenic syndrome in addition to the classical occurrence of myopathy and cardiomyopathy. Since further studies on the NMJ pathology is hampered by the lack of available human striated muscle biopsy specimens, we exploited homozygous desmin knock-out mice which closely mirror the striated muscle pathology of human patients lacking desmin protein. Here, we report on the impact of the lack of desmin on the structure and function of NMJs and on the transcription of genes coding for postsynaptic proteins. Desmin knock-out mice display a fragmentation of NMJs in soleus, but not in extensor digitorum longus muscle. Moreover, soleus muscle fibers show larger NMJs. Further, transcription levels of acetylcholine receptor (AChR) genes are increased in muscles from desmin knock-out mice, especially of the AChR subunit, which is known as a marker of muscle fiber regeneration. Electrophysiological recordings depicted a pathological decrement of nerve-dependent endplate potentials and a faster rise time of the nerve-independent miniature endplate potentials. The latter is indicating an enhanced opening time of the AChR channels. Our study highlights the essential role of desmin for the structural and functional integrity of mammalian neuromuscular junctions.
2020-07-17 | GSE154573 | GEO
Project description:We sought to determine the effects of over-expression of Gli1 on gene expression in C2C12 myotube cultures. C2C12 myoblasts were induced to differentiate for 4 days. At that time, when >80% of nuclei were incorporated into multi-nucleated syncitial myotubes, we infected the cultures with recombinant adenovirus expressing GFP alone or GFP and a full length human Gli1. Media was changed 12 hours later. Cultures were lysed 60 hours after the initial infection. Gli1 over-expression induces de-differentiation of myotubes and proliferation of myoblasts.
2013-12-01 | GSE37702 | GEO
Project description:Transcriptomic changes induced by DUX4 expression were compared between human and mouse cell lines of muscle lineage. We used microarrays to compare transcripts induced in human rhabdmyosarcoma and mouse C2C12 cells ectopically expressing DUX4.
2013-04-08 | GSE45854 | GEO
Project description:Desmin-related myofibrillar myopathy, a severe muscle disease, is caused by mutations in the desmin-encoding gene, leading to skeletal myopathies and/or cardiomyopathy. Although previous studies suggested that desmin mutations alter the cellular structure and mitochondria function in myocyte, the pathophysiological mechanism by which mutated desmin impairs cardiac function has been poorly explored in physiologically relevant human disease models. In this attempt, we generated cardiomyocytes from induced pluripotent stem cells (hiPSC) of a patient carrying the heterozygous DESE439K mutation together with an isogenic pair of mutant hiPSC harboring the same mutation. Using 2D and 3D models as well as cardiac biopsies, we demonstrated that in mutant cardiomyocytes this heterozygous desmin mutation leads to disorganization in their cytoarchitecture and to a perturbation of their mitochondrial architecture and function. Finally, we then demonstrated that transfer of exogenous healthy mitochondria rescues the phenotypic impairment of mitochondrial function in desmin-mutated cardiomyocytes leading to the reversion of the diseased phenotype. This work advances our understanding on the critical role of mitochondria in the development of cardiomyopathy related to desmin mutation and opens up new potential therapeutic perspectives for this debilitating and still incurable disease.
2023-12-05 | GSE245583 | GEO
Project description:RNA Seq of C2C12 cells stimulated with Control, Jag1-expressing or Jag1Ndr-expressing cells
| PRJNA414075 | ENA
Project description:Mutations in LMNA gene cause laminopathies in human. Mostly, laminopathies alter skeletal muscle tissue and lead to cardiomathy and lipodystrophy. We investigated the effect of mutations G232E (EDMD2 syndome) and R482L (FPLD2 syndrome) in LMNA gene on skeletal muclse functioning and metabolism using transgenic C2C12 myoblast cell lines and transcriptome analysis. We found abnormalities of nuclear lamina structure in mutant myoblasts, treir pro-myogenic commitment and metabolic disregulation on all stages of transgenic myoblasts differentiation.
2020-09-12 | GSE150365 | GEO