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Novel role of AGT gene in aplastic anaemia among paediatric patients based on gene expression profiling

Adhikari, S.; Mandal, P.

2020-05-29 bioinformatics
10.1101/2020.05.29.122861 bioRxiv
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ObjectivesSevere aplastic anemia is characterized by a hypocellular bone marrow and peripheral cytopenia. Mesenchymal stem cells (MSCs) play a crucial role in haematopoietic stem cells (HSCs) development and the microenvironment suitable for haematopoiesis. Investigation of the therapeutic targets by paediatric patient-specific gene expression analysis of the MSCs can be important for diagnosis. MethodsThe study was based on freely available miRNA and host gene expression in NCBI GEO dataset. Microarray based gene expression profiles (GSE33812) of MSCs for five paediatric aplastic anaemia patients and healthy controls were generated using Agilent-014850 platform and the data was downloaded from the database. ResultsMSCs gene expression profiling distinguished between healthy controls, children with aplastic anemia. Angioteninogen (AGT) gene involved in ERK1/ERK2 cascade, cyotokine secretion, metabolic processes was strongly down-regulated among all the patients with aplastic anemia. Emerging role of various transcription factors binding to this gene was identified as a new avenue of therapeutic application. ConclusionsAs a potential diagnostic tool, patient-specific gene expression profiling of MSCs made it possible to make the difficult diagnosis of most patients with aplastic anemia.

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