Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Yuan, Zhongyu; Cheng, Li‐Ting; Wang, Ze-feng; Wu, Yongquan

doi:10.1097/cm9.0000000000001581

Cited by 18 publications

(13 citation statements)

References 75 publications

(166 reference statements)

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“…TF is secreted by Sertoli cells and is associated with sperm quality and sperm motility [14] . ADGRG1,DSP, SORBS2 and TJP2 genes which related to cell adhesion were also downregulated in cattle-yak Sertoli cells [15][16][17] . Among these upregulated genes in cattle-yak Sertoli cells, FIS1 can induce the release of cytochrome C from mitochondria into the cytoplasm and ultimately lead to cell apoptosis [18] .RPL27A encodes a ribosomal protein that is a component of the 60S rRNA which belongs to the L15P family of ribosomal proteins and is located in the cytoplasm [19,20] .…”

Section: Discussionmentioning

confidence: 93%

Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Sertoli cells of Yak and Cattle-yak

Chen,

Wang,

Zhang

et al. 2023

Preprint

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Background To study the problem of male sterility of cattle-yak and improve the yak crossbreeding, this study obtained the testicular Sertoli cells of yak and cattle-yak and compared the differences in transcriptome levels between the two bovine species. The testicular tissues of 3 healthy male cattle-yaks and 3 F1 generation male yaks were collected at the age of 24 months. The Sertoli cells were isolated after enzymatic digestion, differential adhesion and starvation treatment. DATA-4 and SOX9 immunofluorescence staining were used to identify the cell type. Sertoli cells were subjected to transcriptome sequencing, GO analysis, KEGG analysis and differentially expressed gene validation. Results The study successfully isolated and purified Sertoli cells of yak and cattle-yak. The transcriptome sequencing data were compared, analyzed and annotated. Compared to yak Sertoli cells, 6592 differentially expressed genes were obtained, 3007 genes were upregulated and 3585 genes were downregulated in cattle-yak Sertoli cells. GO analysis showed that upregulated genes were mainly involved in translation, peptide biosynthetic process, amide biosynthetic process, peptide metabolic process, ribosome, cytoplasmic part, structural constituent of ribosome, structural molecule activity, endomembrane system, protein kinase activity, phosphotransferase activity, etc. The downregulated genes were mainly involved in protein phosphorylation, phosphorylation, endomembrane system, protein kinase activity, phosphotransferase activity, etc. KEGG analysis compared differential genes to 316 pathways, of which 8 pathways were significantly enriched. The upregulated pathways were significantly enriched in cattle-yak Sertoli cells, including ribosome, thermogenesis, oxidative phosphorylation, etc. The downregulated pathways were significantly enriched in adherens junction, mTOR signaling pathway, AMPK signaling pathway, FoxO signaling pathway, focal adhesion, etc. Conclusions Compared with yak Sertoli cells, the expression of genes related to protein activation, cell function and membranous organelle composition in cattle-yak Sertoli cells was abnormal. The defects of cattle-yak Sertoli cells cannot provide a suitable environment for spermatogenesis which may be one of the reasons for male cattle-yak sterility.

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Section: Discussionmentioning

confidence: 93%

Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Sertoli cells of Yak and Cattle-yak

Chen,

Wang,

Zhang

et al. 2023

Preprint

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“…It is a major desmosome component that is abundant and richly presented in myocardial tissue. As such, three isoforms of DSP exist, which perform a functional role in contributing to structural stability via intercellular adhesion [ 55 ]. In addition, desmoplakin has been reported [ 55 ] to regulate the transcription of adipogenic and fibrogenic genes and to maintain proper electrical conductivity through the regulation gap junctions and ion channels.…”

Section: Discussionmentioning

confidence: 99%

“…As such, three isoforms of DSP exist, which perform a functional role in contributing to structural stability via intercellular adhesion [ 55 ]. In addition, desmoplakin has been reported [ 55 ] to regulate the transcription of adipogenic and fibrogenic genes and to maintain proper electrical conductivity through the regulation gap junctions and ion channels. A desmoplakin is essential for normal myocardial development and the maintenance of its structural functions [ 56 ].…”

Section: Discussionmentioning

confidence: 99%

Label-Free Mass Spectrometry-Based Proteomic Analysis in Lamb Tissues after Fish Oil, Carnosic Acid, and Inorganic Selenium Supplementation

Gawor

Ruszczyńska

Konopka

et al. 2022

Animals

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Selenium is an essential nutrient, building twenty five identified selenoproteins in humans known to perform several important biological functions. The small amount of selenium in the earth’s crust in certain regions along with the risk of deficiency in organisms have resulted in increasingly popular dietary supplementation in animals, implemented via, e.g., inorganic selenium compounds. Even though selenium is included in selenoproteins in the form of selenocysteine, the dietary effect of selenium may result in the expression of other proteins or genes. Very little is known about the expression effects modulated by selenium. The present study aimed to examine the significance of protein expression in lamb tissues obtained after dietary supplementation with selenium (sodium selenate) and two other feed additives, fish oil and carnosic acid. Label-free mass spectrometry-based proteomic analysis was successfully applied to examine the animal tissues. Protein-protein interaction network analysis of forty differently-expressed proteins following inorganic selenium supplementation indicated two significant clusters which are involved in cell adhesion, heart development, actin filament-based movement, plasma membrane repair, and establishment of organelle localization.

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“…Desmoplakin (DSP) is a desmosomal protein that is encoded by the DSP gene, located on chromosome 6p24. DSP is expressed in both the skin and myocardium and plays an essential role in cell-to-cell adhesion within the cardiomyocytes by anchoring intermediate filaments to the desmosome [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

Brandão

Bariani

Rigato

et al. 2023

JCM

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Desmoplakin (DSP) is a desmosomal protein that plays an essential role for cell-to-cell adhesion within the cardiomyocytes. The first association between DSP genetic variants and the presence of a myocardial disease referred to patients with Carvajal syndrome. Since then, several reports have linked the DSP gene to familial forms of arrhythmogenic (ACM) and dilated cardiomyopathies. Left-dominant ACM is the most common phenotype in individuals carrying DSP variants. More recently, a new entity—“Desmoplakin cardiomyopathy”—was described as a distinct form of cardiomyopathy characterized by frequent left ventricular involvement with extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury. The purpose of this review was to summarize the available evidence on DSP cardiomyopathy and to identify existing gaps in knowledge that need clarification from upcoming research.

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Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Cited by 18 publications

References 75 publications

Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Sertoli cells of Yak and Cattle-yak

Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Sertoli cells of Yak and Cattle-yak

Label-Free Mass Spectrometry-Based Proteomic Analysis in Lamb Tissues after Fish Oil, Carnosic Acid, and Inorganic Selenium Supplementation

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

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