Mănescu Măriuca, Mănescu Ion Bogdan, Grama Alina
Department of Pediatrics, Emergency County Clinical Hospital of Targu Mures, 50 Gheorghe Marinescu, 540136 Targu Mures, Romania.
Department of Laboratory Medicine, Faculty of Medicine, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 38 Gheorghe Marinescu, 540142 Targu Mures, Romania.
J Pers Med. 2024 Aug 20;14(8):878. doi: 10.3390/jpm14080878.
Type 1 diabetes mellitus (T1D) is an incurable autoimmune disease characterized by the destruction of pancreatic islet cells, resulting in lifelong dependency on insulin treatment. There is an abundance of review articles addressing the prediction of T1D; however, most focus on the presymptomatic phases, specifically stages 1 and 2. These stages occur after seroconversion, where therapeutic interventions primarily aim to delay the onset of T1D rather than prevent it. This raises a critical question: what happens before stage 1 in individuals who will eventually develop T1D? Is there a "stage 0" of the disease, and if so, how can we detect it to increase our chances of truly preventing T1D? In pursuit of answers to these questions, this narrative review aimed to highlight recent research in the field of early detection and prediction of T1D, specifically focusing on biomarkers that can predict T1D before the onset of islet autoimmunity. Here, we have compiled influential research from the fields of epigenetics, omics, and microbiota. These studies have identified candidate biomarkers capable of predicting seroconversion from very early stages to several months prior, suggesting that the prophylactic window begins at birth. As the therapeutic landscape evolves from treatment to delay, and ideally from delay to prevention, it is crucial to both identify and validate such "stage 0" biomarkers predictive of islet autoimmunity. In the era of precision medicine, this knowledge will enable early intervention with the potential for delaying, modifying, or completely preventing autoimmunity and T1D in at-risk children.
1型糖尿病(T1D)是一种无法治愈的自身免疫性疾病,其特征是胰岛细胞被破坏,导致终身依赖胰岛素治疗。有大量综述文章探讨T1D的预测;然而,大多数文章关注的是症状前期阶段,特别是1期和2期。这些阶段发生在血清转化之后,此时治疗干预主要旨在延缓T1D的发病,而非预防该病。这就引出了一个关键问题:最终会患上T1D的个体在1期之前会发生什么?是否存在疾病的“0期”,如果存在,我们如何检测到它以增加真正预防T1D的机会?为了寻求这些问题的答案,本叙述性综述旨在突出T1D早期检测和预测领域的最新研究,特别关注能够在胰岛自身免疫发作之前预测T1D的生物标志物。在此,我们汇集了表观遗传学、组学和微生物群领域的有影响力的研究。这些研究已经确定了能够从非常早期阶段到发病前几个月预测血清转化的候选生物标志物,这表明预防窗口期从出生时就开始了。随着治疗格局从延缓治疗发展,理想情况下从延缓发展到预防,识别并验证这类预测胰岛自身免疫的“0期”生物标志物至关重要。在精准医学时代,这些知识将使我们能够对有风险的儿童进行早期干预,有可能延缓、改变或完全预防自身免疫和T1D。