Luigetti Marco, Romano Angela, Guglielmino Valeria, Sciarrone Maria Ausilia, Vitali Francesca, Carbone Carmine, Piro Geny, Sabino Andrea, De Stefano Nicola, Plantone Domenico, Primiano Guido
Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Brain Sci. 2022 Dec 12;12(12):1708. doi: 10.3390/brainsci12121708.
Hereditary transthyretin (ATTRv) amyloidosis is a severe, progressive, and heterogeneous multisystemic condition due to mutations in the TTR gene. Although multiple aspects of its molecular pathophysiological mechanisms have been elucidated over the years, it is possible to hypothesize different pathogenetic pathways. Indeed, we extensively investigated the serum levels of several molecules involved in the immune response, in a cohort of ATTRv patients and healthy controls (HCs). Sixteen ATTRv patients and twenty-five HCs were included in the study. IFN-alpha levels were higher in ATTRv patients than in HCs, as well as IFN-gamma levels. By contrast, IL-7 levels were lower in ATTRv patients than in HCs. No significant difference between groups was found regarding IL-1Ra, IL-6, IL-2, IL-4, and IL-33 levels. Correlation analysis did not reveal any significant correlation between IFN-α, IFN-γ, IL-7, and demographic and clinical data. Larger and longitudinal studies using ultrasensitive methods to perform a full cytokine profiling are needed to better elucidate the role of inflammation in ATTRv pathogenesis and to test the reliability of these molecules as possible biomarkers in monitoring patients' progression.
遗传性转甲状腺素蛋白（ATTRv）淀粉样变性是一种由于TTR基因突变导致的严重、进行性且异质性的多系统疾病。尽管多年来其分子病理生理机制的多个方面已得到阐明，但仍有可能推测出不同的致病途径。事实上，我们在一组ATTRv患者和健康对照（HCs）中广泛研究了几种参与免疫反应的分子的血清水平。该研究纳入了16例ATTRv患者和25例HCs。ATTRv患者的IFN-α水平高于HCs，IFN-γ水平也是如此。相比之下，ATTRv患者的IL-7水平低于HCs。在IL-1Ra、IL-6、IL-2、IL-4和IL-33水平方面，两组之间未发现显著差异。相关性分析未揭示IFN-α、IFN-γ、IL-7与人口统计学和临床数据之间存在任何显著相关性。需要使用超灵敏方法进行全面细胞因子谱分析的更大规模的纵向研究，以更好地阐明炎症在ATTRv发病机制中的作用，并测试这些分子作为监测患者病情进展的可能生物标志物的可靠性。
