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CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome

ABSTRACT: CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome

PROVIDER: PRJNA517978 | ENA |

REPOSITORIES: ENA

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CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome

Project description:CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome

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Transcriptomic analysis of fibroblast from 10 Ehlers-Danlos SYndrome (EDS) patients.

Project description:Ehlers-Danlos SYndrome (SEDSY) was performed compared to 4 control healty samples with the aim to identify dysregulated genes and pathways and to use this information to propose potential drugs that could be repurposed for the treatment, based on computational approaches to drug repositioning.In summary, this comprehensive study expands our understanding of the molecular basis of Ehlers-Danlos syndrome, particularly relating to COL3A1 mutations. The integration of transcriptomic analysis, pathway studies, and drug repurposing strategies provides a robust framework for identifying potential therapeutic strategies for EDS.

2025-06-10 | GSE270199 | GEO

Transcriptomic analysis of Multicellular spheroids from 10 Ehlers-Danlos SYndrome (EDS) patients.

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10 Ehlers-Danlos SYndrome (EDS) patients

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Transcriptome profiles of monocytes of Periodontal Ehlers–Danlos Syndrome patients

Project description:Periodontal Ehlers–Danlos syndrome (pEDS) is a rare, distinct hereditary disorder characterized by early onset periodontal destruction, tissue fragility and joint hypermobility. pEDS is caused by mutant variants of C1R (and C1S) genes, which encode the C1s (and C1s) subunits of the first component of the classical complement pathway. Abberant serine protease activation will result in C4 cleavage and local complement cascade activation, as well as other possible consequences. Although multiple studies have investigated the genetic variant analysis of pEDS, the transcriptome profiles of pEDS remain unknown. To better understand the pathomechanism underlying the clinical manifestation of pEDS and to identify novel molecular targets that may expand treatment strategies, our study performed transcriptome profiling by RNA sequencing of patient-derived monocytes from 2 pEDS patients and 3 normal controls. Genes related to periodontal host defense, inflammatory response, skin disease and vascular development were significantly enriched. Furthermore, we identified genes that may be involved in the pathogenesis of periodontal destruction and pretibial pigmentation of pEDS. Overall, our study presents the first pEDS transcriptomics data, revealing distinct molecular features in monocytes of periodontal Ehlers–Danlos syndrome, and serves as a tool to better understand the disease.

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Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome

Project description:Vascular Ehlers-Danlos syndrome is a rare inherited disorder caused by genetic variants in type III collagen. Its prognosis is especially hampered by unpredictable arterial ruptures and there is no therapeutic consensus. We created a knock-in Col3a1+/G182R mouse model and performed a complete genetic, molecular and biochemical characterization. Several therapeutic strategies were also tested. Col3a1+/G182R mice showed a spontaneous mortality caused by thoracic aortic rupture that recapitulates the vascular Ehlers-Danlos syndrome with a lower survival rate in males, thin non-inflammatory arteries and an altered arterial collagen. Transcriptomic analysis of aortas showed upregulation of genes related to inflammation and cell stress response. Compared to water, survival rate of Col3a1+/G182R mice was not affected by beta-blockers (propranolol or celiprolol). Two other vasodilating anti-hypertensive agents (hydralazine, amlodipine) gave opposite results on aortic rupture and mortality rate. There was a spectacular beneficial effect of losartan, reversed by the cessation of its administration, and a marked deleterious effect of exogenous angiotensin II. These results suggest that blockade of the renin angiotensin system should be tested as a first-line medical therapy in patients with vascular Ehlers-Danlos syndrome.

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Microarray expression data on cultured dermal fibroblasts from patients affected with classical Ehlers Danlos syndrome (cEDS)

Project description:Gene expression profiling of cultured skin fibroblasts obtained from patients affected with classical Ehlers Danlos syndrome (cEDS) Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression pattern of cultured skin fibroblasts from 4 cEDS patients with those of 9 healthy individuals

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Microarray expression data obtained from human skin fibroblasts derived from patients affected with vascular Ehlers Danlos syndrome (vEDS)

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Modulating the Extracellular Matrix to Treat Wound Healing Defects in Ehlers-Danlos Syndrome

Project description:Classic Ehlers Danlos syndrome (cEDS) is one of the most common genetic disorders of the connective tissue and musculoskeletal system characterized by mutations in genes encoding for type V collagen. Defects in wound healing constitute one of the most common and debilitating symptoms in individuals with cEDS but currently, no therapeutic strategies exist to attenuate wound healing defects in cEDS. We create a new murine model of cEDS, that remarkably phenocopies wound healing defects in human cEDS. Using this model, we show that an abnormal extracellular matrix (ECM) characterized by fibrillar disarray, altered mechanical properties and decreased collagen deposition contribute to the wound healing defect in cEDS. The cEDS animals exhibit decreased expression of epidermal genes and increased inflammation consistent with the human phenotype. We show that integrin expression is altered in wounds of cEDS animals and small molecule modulators of mechanosensitive integrin signaling attenuate wound healing defects. Finally, we demonstrate that rescuing extracellular matrix defects by injecting wild type fibroblasts into wounds of cEDS animals significantly enhances epidermal gene expression, decreases inflammation, augments wound closure and rescues defective wound repair. Taken together, these observations suggest that modulation of the extracellular matrix in Ehlers-Danlos syndrome either with small molecule inhibitors of mechanosensitive integrin signaling, or direct injection of wild type fibroblasts into the wound bed may have therapeutic potential for enhancing wound healing in cEDS.

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Transcriptome profiles of monocytes of Periodontal Ehlers–Danlos Syndrome patients

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