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Alteration in apoptosis and ataxia telangiectasia mutated (ATM) gene expression in mesenchymal stem cells in patients with idiopathic acquired aplastic anemia

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Abstract

Acquired aplastic anemia (AA) is a chronic debilitating disease, often fatal with no effective treatment. Intense research into its pathogenesis is ongoing with promising results. The present study explores apoptosis and ATM gene expression in mesenchymal stem cells (MSCs) in idiopathic aplastic anemia (IAA). The study included 15 acquired IAA patients and 17 patients with non-aplastic non-neoplastic disorders and matched age and sex distribution as a control group. Long-term bone marrow (BM) cultures for patients and controls followed for isolation of MSCs isolation and their flow cytometry identification using CD44 and CD105 and apoptosis assessment using annexin V and propidium iodide (PI). For the expression of the ATM gene, we used reverse transcription–polymerase chain reaction (RT-PCR). We demonstrated a significantly higher MSC apoptEosis in AA patients than in the controls (median = 0.7 versus 0.3, p value = 0.000). Early apoptosis (D1%) was significantly higher in patients than controls (median = 66.1 versus 14.4, p values = 0.000). The ATM gene expression was significantly lower in cultured MSCs of patients compared to controls (median = 0.2 versus 0.8, p values = 0.0000). Abnormal bone marrow MSCs kinetics may contribute to the pathogenesis of idiopathic AA and might thus be a potential therapeutic target.

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Authors and Affiliations

  1. Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt

    Samia H. Rizk, Rania M. Samy & Aml S. Nasr

  2. Internal Medicine Department, Cairo University, Cairo, Egypt

    Noha M. El Husseiny

  3. National Nutrition Institute, Cairo, Egypt

    Thereza R. Sobhy

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  1. Samia H. Rizk
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  2. Rania M. Samy
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  3. Aml S. Nasr
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  4. Noha M. El Husseiny
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  5. Thereza R. Sobhy
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Correspondence to Aml S. Nasr.

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Rizk, S.H., Samy, R.M., Nasr, A.S. et al. Alteration in apoptosis and ataxia telangiectasia mutated (ATM) gene expression in mesenchymal stem cells in patients with idiopathic acquired aplastic anemia. Comp Clin Pathol 32, 971–979 (2023). https://doi.org/10.1007/s00580-023-03509-7

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