Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions

Frontiers in Molecular Neuroscience
Nane EiberSaid Hashemolhosseini

Abstract

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 120 mutations of the human DES gene cause hereditary and sporadic myopathies and cardiomyopathies. A subgroup of human desminopathies comprises autosomal recessive cases resulting in the 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 are 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 the transcription of genes c...Continue Reading

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Citations

Mar 2, 2021·Curēus·Bruno BordoniLuigi Pianese
May 1, 2021·International Journal of Molecular Sciences·Lorenzo MaggiGiovanna Lattanzi

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Datasets Mentioned

BETA
GSE154573

Methods Mentioned

BETA
biopsies
RNA-Seq

Software Mentioned

GSEA
DESeq2
Gene Set Enrichment Analysis tool ( GSEA
GOrilla
REVIGO
Gene Ontology enRIchment anaLysis
visuaLizAtion
Galaxy Server
AMIGO
Galaxy

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