Department of Pathology, University of South Alabama, 2451 University Hospital Drive, Mobile, AL 36617, USA.
Biomolecules. 2024 Oct 8;14(10):1264. doi: 10.3390/biom14101264.
(AT) is a rare autosomal recessive disorder characterized by immunodeficiency, progressive cerebellar ataxia, and an increased malignancy risk. Cells derived from individuals with AT show multiple defects, including high oxidant and ionizing radiation sensitivities, poor DNA repair, low iron-sulfur cluster levels, and low reduced glutathione. The clinical course of AT is progressive and unrelenting, with most individuals having a survival time of approximately twenty-five years. Presently, AT has no effective treatments, and most patients receive supportive care only. Recently, pioglitazone, a thiazolidinedione class used to treat type 2 diabetes, has been demonstrated to exert beneficial effects on AT cells and on diabetic individuals with AT. Here, I will discuss the possible molecular mechanisms of pioglitazone's favorable effects on the AT phenotype and why it may have utility in treating some aspects of AT.
(AT) 是一种罕见的常染色体隐性遗传病，其特征为免疫缺陷、进行性小脑共济失调和恶性肿瘤风险增加。来自 AT 患者的细胞显示出多种缺陷，包括对氧化剂和电离辐射的敏感性高、DNA 修复能力差、铁硫簇水平低以及还原型谷胱甘肽水平低。AT 的临床病程是进行性和不可逆转的，大多数患者的生存时间约为二十五年。目前，AT 没有有效的治疗方法，大多数患者仅接受支持性治疗。最近，吡格列酮是一种用于治疗 2 型糖尿病的噻唑烷二酮类药物，已被证明对 AT 细胞和患有 AT 的糖尿病患者具有有益作用。在这里，我将讨论吡格列酮对 AT 表型的有利作用的可能分子机制，以及为什么它可能对治疗 AT 的某些方面有用。
