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EDMD-causing emerin mutant myogenic progenitors exhibit impaired differentiation using similar mechanisms

ABSTRACT: EDMD-causing emerin mutant myogenic progenitors exhibit impaired differentiation using similar mechanisms

PROVIDER: PRJNA638664 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR11991100.fastq.gz	Fastqsanger.gz
	SRR11991101.fastq.gz	Fastqsanger.gz
	SRR11991102.fastq.gz	Fastqsanger.gz
	SRR11991103.fastq.gz	Fastqsanger.gz
	SRR11991104.fastq.gz	Fastqsanger.gz

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EDMD-causing emerin mutant myogenic progenitors exhibit impaired differentiation using similar mechanisms

Project description:RNA sequencing was performed on proliferating and differentiating emerin-null myogenic progenitors expressing emerin and EDMD-causing emerin mutants to identify molecular pathways implicated in Emery-Dreifuss Muscular Dystrophy.

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EDMD-Causing Emerin Mutant Myogenic Progenitors Exhibit Impaired Differentiation Using Similar Mechanisms.

Project description:Mutations in the gene encoding emerin (EMD) cause Emery-Dreifuss muscular dystrophy (EDMD1), an inherited disorder characterized by progressive skeletal muscle wasting, irregular heart rhythms and contractures of major tendons. The skeletal muscle defects seen in EDMD are caused by failure of muscle stem cells to differentiate and regenerate the damaged muscle. However, the underlying mechanisms remain poorly understood. Most EDMD1 patients harbor nonsense mutations and have no detectable emerin protein. There are three EDMD-causing emerin mutants (S54F, Q133H, and D95-99) that localize correctly to the nuclear envelope and are expressed at wildtype levels. We hypothesized these emerin mutants would share in the disruption of key molecular pathways involved in myogenic differentiation. We generated myogenic progenitors expressing wildtype emerin and each EDMD1-causing emerin mutation (S54F, Q133H, D95-99) in an emerin-null (EMD-/y) background. S54F, Q133H, and D95-99 failed to rescue EMD-/y myogenic differentiation, while wildtype emerin efficiently rescued differentiation. RNA sequencing was done to identify pathways and networks important for emerin regulation of myogenic differentiation. This analysis significantly reduced the number of pathways implicated in EDMD1 muscle pathogenesis.

| S-EPMC7349064 | biostudies-literature

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Project description:Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

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Transcriptome analysis of zebrafish mononuclear myogenic cells (zMNCs) during myogenic differentiation

Project description:Analysis of the transcriptome of zebrafish mononuclear myogenic cells (zMNCs) during myogenic differentiation. The main goal is to identify the similarities of zMNC myogenic differentiation with that of mammalian myoblast differentiation. Critical time points were used to identify a switch from the activity of cell proliferation genes to myogenic structural genes. 15-20 adult zebrafish dorsal skeletal muscles were isolated at each of 6 distinct time points (day 0, day 1, day 4, day 7, day 10, day 14) in replicates.

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Transcriptome analysis of zebrafish mononuclear myogenic cells (zMNCs) during myogenic differentiation

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SNAIL is a key regulator of rhabdomyosarcoma progression and myogenic differentiation

Project description:Rhabdomyosarcoma (RMS) is a frequent non-epithelial tumor of soft tissue that originates from a myogenic differentiation defect. Expression of SNAIL transcription factor is elevated in the alveolar subtype of RMS, characterized by a low myogenic differentiation status and high aggressiveness. SNAIL affects RMS metastasis by reorganization of actin cytoskeleton, regulation of ezrin expression and chemotaxis to HGF and SDF-1. The differentiation of human RMS diminishes SNAIL level. SNAIL silencing completely abolishes the growth of human RMS xenotransplants. SNAIL inhibits myogenic differentiation of RMS by binding to the MYF5 promoter, suppressing its expression, displacing MYOD from canonical to alternative E-box sequences and regulating myomiRs expression. SNAIL silencing allows the re-expression of MYF5 and canonical MYOD binding, promoting RMS cell myogenic differentiation. These novel results open potential avenues for the development of innovative therapeutic strategies based on SNAIL silencing.

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Expression profiling of differentiating emerin-null myogenic progenitor identifies molecular pathways implicated in their impaired differentiation

Project description:RNA sequencing was performed on proliferating and differentiating wildtype and emerin-null myogenic progenitors to identify molecular pathways implicated in Emery-Dreifuss Muscular Dystrophy.

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Stromal fibroblasts exhibit a similar transcriptome to mesenchymal stem cells in the perimenopausal endometrium

Project description:Mesenchymal stem cells (eMSC) from perimenopausal (PeriM) endometrium do not exhibit significantly different transcriptomes from their premenopausal (PreM) counterparts, but PeriM endometrial stromal fibroblasts (eSF) demonstrate altered pathway activation.We compared transcriptomes of PeriM and PreM eSF, investigated if eMSC persist in PeriM endometrium, and whether eMSC and eSF undergo changes as a result of the perimenopausal endocrine milieu.Endometrium was obtained from 9 PeriM and 9 PreM women. Microarray analysis was performed on FACS-isolated eSF and eMSC and data were validated by quantitative RT-PCR. eMSC were immuofluorescently localized to the perivascular region of PeriM endometrium.Principal component analysis showed that cells clustered into three distinct groups in 3-dimensional space: PeriM eMSC and PreM eMSC clustered together, while PeriM eSF and PreM eSF formed two discrete clusters separate from eMSC. Hierarchical clustering revealed a branching pattern consistent with the PCA results, indicating that eMSC from PreM and PeriM women exhibited a similar transcriptomic signature. Pathway analysis revealed dysregulation of cytoskeleton, proliferation, and survival pathways in PeriM vs. PreM eSF. A number of small nucleolar RNAs were also differentially regulated in PeriM eSF.Cell populations have altered gene expression in PeriM vs. PreM endometrium. While eMSC populations exhibited similar transcriptomes, PeriM eSF had altered pathway activation when compared to PreM eSF. This study provides insight into aging endometrium with relevance to function, including pregnancy establishment in reproductively older women.

2017-03-29 | GSE97163 | GEO

Loss of the Nuclear Envelope Protein LAP1B Disrupts Myogenic Differentiation of Patient-Derived Fibroblasts

Project description:Lamina-associated polypeptide 1 (LAP1) is a ubiquitously expressed inner nuclear membrane protein encoded by TOR1AIP1, and present as two isoforms in humans, LAP1B and LAP1C. While loss of both isoforms results in a multisystemic progeroid-like syndrome, specific loss of LAP1B causes muscular dystrophy and cardiomyopathy, suggesting that LAP1B has a critical role in striated muscle. To gain more insight into the molecular pathophysiology underlying muscular dystrophy caused by LAP1B, we established a patient-derived fibroblast line transdifferentiated into myogenic cells with inducible MyoD expression. Compared to controls, we observed strikingly reduced myogenic differentiation and fusion potentials. Similar defects were observed in C2C12 myoblasts carrying loss-of-function LAP1A/B mutations. Using RNA sequencing, we showed that despite MyoD overexpression and efficient cell cycle exit, transcriptional reprogramming of LAP1B-deficient cells into the myogenic lineage was impaired with delayed activation of myogenin and muscle-specific downstream genes. Gene set enrichment analysis suggested dysregulation of protein metabolism, extracellular matrix and chromosome organization. Finally, we found that LAP1B-deficient cells exhibit nuclear deformations such as increased micronuclei and altered morphometric parameters. This study reports the phenotypic and transcriptomic changes during myoconversion of patient-derived fibroblasts and provides a useful resource to gain new insights into the mechanisms implicated in LAP1B-associated nuclear envelopathies.

2022-10-02 | GSE214495 | GEO

Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy.

Project description:The hyperglycemia of maternal diabetes suppresses the glucose transporter-1 (GLUT1) facilitative glucose transporter 49-66% in preimplantation embryos. Glucose uptake is reduced and apoptosis is activated. We hypothesized that the reduction of embryonic GLUT1 may play a key role in the malformations of diabetic embryopathy. Therefore, we produced GLUT1-deficient transgenic mice [i.e., antisense-GLUT1 (GT1AS)] to determine whether GLUT1 deficiency alone could reproduce the growth defects. Early cell division of fertilized mouse eggs injected with GT1AS was markedly impaired, P < 0.001 vs. controls. Two populations of preimplantation embryos obtained from GT1AS x GT1AS heterozygote matings exhibited reduction of the 2-deoxyglucose uptake rate: one by 50% (presumed heterozygotes, P < 0.001 vs. control) and the other by 95% (presumed homozygotes, P < 0.001 vs. heterozygotes). Embryonic GLUT1 deficiency in the range reported with maternal diabetes was associated with growth retardation and developmental malformations similar to those described in diabetes-exposed embryos: intrauterine growth retardation (31.1%), caudal regression (9.8%), anencephaly with absence of the head (6.6%), microphthalmia (4.9%), and micrognathia (1.6%). Reduced body weight (small embryos, <70% of the nontransgenic body weight) was accompanied by other malformations and a 56% reduction of GLUT1 protein, P < 0.001 vs. nonsmall embryos (body weight >or=70% normal). The heart, brain, and kidneys of embryonic day 18.5 GT1AS embryos exhibited 24-51% reductions of GLUT1 protein. The homozygous GT1AS genotype was lethal during gestation. Reduced embryonic GLUT1 was associated with the appearance of apoptosis. Therefore, GLUT1 deficiency may play a role in producing embryonic malformations resulting from the hyperglycemia of maternal diabetes. Late gestational macrosomia was absent, apparently requiring a different mechanism.

| S-EPMC307616 | biostudies-literature

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