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Downregulation of UBA1 Expression in Myelodysplastic Syndrome

ABSTRACT: Downregulation of UBA1 Expression in Myelodysplastic Syndrome

PROVIDER: PRJNA998059 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR25406674_1.fastq.gz	Fastqsanger.gz
	SRR25406674_2.fastq.gz	Fastqsanger.gz
	SRR25406675_1.fastq.gz	Fastqsanger.gz
	SRR25406675_2.fastq.gz	Fastqsanger.gz
	SRR25406676_1.fastq.gz	Fastqsanger.gz

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Downregulation of UBA1 Expression in Myelodysplastic Syndrome

Project description:Somatic loss-of-function mutations of the ubiquitin-activating enzyme E1 gene (UBA1) that occur in VEXAS syndrome (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) also occur in myelodysplastic syndrome (MDS). This suggests that impairment of UBA1 activity contributes to the pathogenesis of these diseases, which are both characterized by systemic inflammation. We sought to determine whether abnormal expression of UBA1 in MDS contributes to disease development. We analyzed RNA sequencing results obtained from CD34+ bone marrow hematopoietic stem and progenitor cells of patients with treatment-naive MDS or chronic myelomonocytic leukemia and from heathy donors, and we detected significant downregulation of UBA1 RNA expression in MDS. In patients with MDS without excess blasts, UBA1 downregulation was associated with altered innate immune and autophagy signaling and co-occurred with SF3B1 mutations. Moreover, in cultured human bone marrow hematopoietic stem and progenitor cells and in mice, pharmacologic inhibition of UBA1 led to impaired hematopoietic repopulating activity, particularly in the erythroid compartment. These results indicate that, in addition to somatic mutations, downregulation of UBA1 may play a role in MDS pathogenesis.

2024-10-02 | GSE238153 | GEO

Myelodysplastic syndrome: NUP98-HoxD13 (NHD13) expression effect on hematopoietic stem cells

Project description:Analysis of Lin-c-Kit+Sca-1- haematopoietic stem cells (HSCs) expressing the Nup98-HoxD13 (NHD13) fusion gene. NHD13 induces myelodysplastic syndrome (MDS) in mice. Results provide insight into the molecular basis of the myelodysplastic phenotype WT mouse HSCs were compared to an NHD13 mutant sequenced in triplicate on a HiSeq 2000

2016-07-03 | E-GEOD-66264 | biostudies-arrayexpress

Myelodysplastic syndrome: NUP98-HoxD13 (NHD13) expression effect on hematopoietic stem cells

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Predictors of Myelodysplastic Syndrome in Minnesota

Project description:Predictors of Myelodysplastic Syndrome in Minnesota

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Gene expression profiling in myelodysplastic syndrome patients treated with deferasirox

Project description:Deferasirox (DFX) is an oral iron chelator used to reduce iron overload caused by frequent red blood cell transfusions in anemic myelodysplastic syndrome (MDS) patients. To study molecular mechanisms by which DFX improves outcome in MDS, we analyzed gene expression patterns in MDS patients before and after DFX therapy.

2020-11-04 | GSE160727 | GEO

Aberrant alternative splicing profiling for myelodysplastic syndrome (MDS) patients

Project description:Transcriptome analysis of total RNA from bone marrow (BM) mononuclear cells of MDS patients and normal dornors Global gene expression and alternative splicing profiling among patients with myelodysplastic syndrome (MDS) compared with normal donors

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Gene expression profiling in myelodysplastic syndrome patients treated with deferasirox

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Analysis of chromatin accessibility relative to epigenetic features of azacitidine response in high-risk myelodysplastic syndrome

Project description:Azacitidine is used to treat patients with myelodysplastic syndrome, which alters epigenetic regulatory program that changes global gene expression by inhibiting DNA methylation. However, epigenomic factors affecting azacitidine response have not been studied in the context of chromatin. The efficacy of the hypomethylating agent differs by patient, leaving approximately 40% of patients fail to respond. Here, we demonstrate that chromatin accessibility features in patient-derived bone marrow cells can distinguish azacitidine responders from non-responders before treatment. Profiling chromatin accessibility from 23 high-risk myelodysplastic syndrome patients discovered that treatment response is strongly associated with distinct hematopoietic cell states. While non-responders showed enrichment of myeloid progenitor signatures, responders were characterized by elevated T cell populations. Notably, CD8+ T cells from non-responders exhibited selective loss of chromatin accessibility at TBX/EOMES binding sites, revealing a previously unrecognized link between T cell differentiation state and azacitidine response. These findings suggest the importance of immune cell differentiation and their activity in hypomethylating agent response for myelodysplastic syndromes, providing insights for patient stratification and treatment optimization based on the chromatin accessibility in high-risk myelodysplastic syndrome patients.

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