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Whole blood RNA sequencing analysis in methemoglobinemia

ABSTRACT: Whole blood RNA sequencing analysis in methemoglobinemia

PROVIDER: PRJNA824080 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR18664079_1.fastq.gz	Fastqsanger.gz
	SRR18664079_2.fastq.gz	Fastqsanger.gz
	SRR18664080_1.fastq.gz	Fastqsanger.gz
	SRR18664080_2.fastq.gz	Fastqsanger.gz
	SRR18664081_1.fastq.gz	Fastqsanger.gz

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Whole blood RNA sequencing analysis in methemoglobinemia

Project description:Methemoglobinemia is a condition in which methemoglobin (MetHb) is increased and the oxygen carrying capacity of tissues is decreased, causing a lack of oxygen to the whole body. The patient, 31 years old, was brought to our hospital with symptoms of dyspnea due to inhalation of gas from an acetic acid phosphonitrate storage tank at a factory. An arterial blood gas test was performed and the methemoglobin level was 23.1%. After administration of methylene blue, the methemoglobin level normalized and the symptoms improved. RNA sequencing was performed on blood samples. In this study, we first evaluated RNAs from the whole blood in the patients with methemoglobinemia. The RNA-seq analysis showed that activated “Hydrogene peroxide catabolic process” was associated with the pathogenesis of methemoglobinemia. These results are reported here because they explain the pathogenesis of methemoglobinemia.

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Project description:Purpose: The main objective of this pilot study was to compare blood transcriptional landscape of OI patients with COL1A1 pathogenic variants and their healthy relatives, in order to find out different gene expression and dysregulated molecular pathways in OI. Methods: We performed RNA sequencing analysis of the whole blood in seven individuals affected with different OI severity and their five unaffected relatives from the three families. The data was analyzed using edgeR package of R Bioconductor. Functional profiling and pathway analysis of the identified differently expressed genes was performed with g:GOSt and MinePath web-based tools. Results: We identified 114 differently expressed genes. The expression of 79 genes was up-regulated, while 35 genes were down-regulated. The functional analysis identified a presence of dysregulated interferon signaling pathways (IFI27, IFITM3, RSAD12, GBP7). Additionally, the expressions of the genes related to extracellular matrix organization, Wnt signaling, vitamin D metabolism and MAPK-ERK 1/2 pathways were also altered. Conclusions: The current pilot study successfully captured the differential expression of inflammation and bone metabolism pathways in OI patients.

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