Dataset Information

Muscular changes upon desmin mutation

ABSTRACT: a knockin mouse model was generatded that expresses the desmin mutant R405W either heterozygotic or homozygotic. the soleus muscle from 6 wt animals and each 6 aniamls with either heterzygotic or homozygotic mutation of desmin were extracted and embedded for cryotome sectioning. Muscle sections from 10 µm slices were collected in an eppendorf vial for proteomic analysis.

INSTRUMENT(S):

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Soleus

DISEASE(S): Skeletal Muscle Atrophy

SUBMITTER: Andreas Schmidt

LAB HEAD: Markus Krüger

PROVIDER: PXD042319 | Pride | 2025-11-10

REPOSITORIES: Pride

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Publications

R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy.

Batonnet-Pichon Sabrina S Delort Florence F Lilienbaum Alain A Berwanger Carolin C Schultheis Dorothea D Schlötzer-Schrehardt Ursula U Schmidt Andreas A Uebe Steffen S Baiche Yosra Y Eisenack Tom J TJ Trentini Débora Broch DB Mallek Markus M Mill Leonid L Ferreiro Ana A Eberhard Bettina B Lücke Thomas T Krüger Markus M Thiel Christian C Schröder Rolf R Clemen Christoph S CS

Journal of cachexia, sarcopenia and muscle 20251201 6

<h4>Background</h4>Mutations in the desmin gene cause skeletal myopathies and cardiomyopathies. The objective of this study was to elucidate the molecular pathology induced by the expression of R405W mutant desmin in murine skeletal muscle.<h4>Methods</h4>A comprehensive characterization of the skeletal muscle pathology in hetero- and homozygous R405W desmin knock-in mice was performed. This included grip strength, blood acylcarnitine and amino acid, histological, ultrastructural, immunofluoresc ...[more]

PMID: 41165044

Similar Datasets

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.

			Action	DRS
	LaminC1_B1_extract.xlsx	Xlsx
	OEII25670.raw	Raw
	R406W_library.tsv	Tabular
	R406W_prot-first-pass.tsv	Tabular
	R406W_prot.gg_matrix.tsv	Tabular