To assess and validate the gene expression profile of (, , , , , , and ) in relation to the pathogenesis and prognostic progression of Myelodysplastic neoplasm (MDS). Eighty bone marrow samples of patients with MDS were diagnosed according to WHO 2022 and IPSS-R criteria. Ten bone marrow samples were obtained from elderly healthy volunteers and used as control samples. Gene expression levels of all were assessed using RT-qPCR assays. Downregulation of (p = 0.009), (p = 0.048), (p = 0.049), (p = 0.046), (p = 0.043), and (p = 0.047) was identified in MDS patients compared to control individuals. Also, we identified that while genes are typically down-regulated in MDS patients compared to normal controls, there are relative expression variations among MDS patient subgroups. Specifically, (p = 0.029) showed increased expression in patients aged 60 or above, and both (p = 0.016) and (p = 0.036) were upregulated in patients with hemoglobin levels below 8 g/dL. (p = 0.045) and (p = 0.033) were highly expressed in patients with chromosomal abnormalities. Different exhibited altered expression patterns concerning specific MDS clinical and prognostic characteristics. The downregulation in genes (e.g., to ) expression in Brazilian MDS patients highlights their role in the disease's development. The upregulation of and in severe anemia patients suggests a potential link to manage iron overload-related complications in transfusion-dependent patients. Moreover, the association of with genomic instability and their role in MDS progression signify promising areas for future research and therapeutic targets. These findings underscore the importance of SIRT family in understanding and addressing MDS, offering novel clinical, prognostic, and therapeutic insights for patients with this condition.

中文翻译：

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Sirtuin 家族成员 (SIRT1 TO SIRT7) 的基因表达模式：深入了解骨髓增生异常肿瘤的发病机制和预后

评估和验证 (, , , , , , 和 ) 与骨髓增生异常肿瘤 (MDS) 发病机制和预后进展相关的基因表达谱。根据WHO 2022和IPSS-R标准对80例MDS患者的骨髓样本进行诊断。从老年健康志愿者中获取十份骨髓样本并用作对照样本。使用 RT-qPCR 测定评估所有基因表达水平。与对照个体相比，MDS 患者的 (p = 0.009)、(p = 0.048)、(p = 0.049)、(p = 0.046)、(p = 0.043) 和 (p = 0.047) 下调。此外，我们还发现，虽然与正常对照相比，MDS 患者的基因通常下调，但 MDS 患者亚组之间存在相对表达差异。具体而言，(p = 0.029) 在 60 岁或以上的患者中表达增加，并且 (p = 0.016) 和 (p = 0.036) 在血红蛋白水平低于 8 g/dL 的患者中表达上调。 (p = 0.045) 和 (p = 0.033) 在染色体异常患者中高表达。不同的表达模式与特定的 MDS 临床和预后特征有关。巴西MDS患者基因（例如to ）表达的下调凸显了它们在疾病发展中的作用。严重贫血患者的上调表明，与输血依赖患者的铁超载相关并发症的治疗存在潜在联系。此外，与基因组不稳定性的关联及其在 MDS 进展中的作用标志着未来研究和治疗目标的有希望的领域。这些发现强调了 SIRT 系列在理解和解决 MDS 方面的重要性，为患有这种疾病的患者提供了新颖的临床、预后和治疗见解。