Pratama Muhammad Yogi, Pascut Devis, Tamini Sofia, Minocci Alessandro, Tiribelli Claudio, Grugni Graziano, Sartorio Alessandro
Fondazione Italiana Fegato-ONLUS, 34149 Trieste, Italy.
Faculty of Medicine, Universitas Hasanuddin, Makassar 90245, Indonesia.
J Clin Med. 2020 Apr 14;9(4):1123. doi: 10.3390/jcm9041123.
Prader-Willi syndrome (PWS) is a rare and poorly characterized disease. Recent genomic and transcriptomic studies contributed to elucidate the molecular bases of the syndrome. In this study, we characterized the expression of circulating miRNAs in patients with PWS compared to those with non-syndromic obesity in association with liver steatosis.
MiRNAs were studied by qRT-PCR in serum samples from 30 PWS and 30 non-syndromic obese subjects.
MiRNA expression was associated with the presence of the syndrome and to the grade of liver steatosis. MiR-122-5p, miR-151a, miR-92a-3p were up-regulated in obese (4.38-fold, < 0.01; 2.72-fold, < 0.05; 1.34-fold < 0.05, respectively) and were able to differentiate obese from PWS (AUC = 0.81, sens/spec 78/71%). When stratifying groups according to the presence of steatosis, the expression of miR-151a-5p, miR-92a-3p, miR-106b-5p, and miR-93-5p were lower in PWS with steatosis grade 1. Within the group with steatosis grade 1, miR-151a-5p was significantly distinguished PWS from obese (AUC = 0.85, sens/spec 80/85%) and the combination of miR-106b-5p and miR-93-5p showed higher performances in discriminating different grades of steatosis in PWS (AUC = 0.84, sens/spec 93/74%).
MiRNAs represent a tool to better classify and characterize PWS, providing new information about the clinical picture and the extent of steatosis.
普拉德-威利综合征（PWS）是一种罕见且特征不明的疾病。最近的基因组和转录组学研究有助于阐明该综合征的分子基础。在本研究中，我们对PWS患者与非综合征性肥胖且伴有肝脂肪变性患者的循环miRNA表达进行了特征分析。
通过qRT-PCR对30例PWS患者和30例非综合征性肥胖受试者的血清样本中的miRNA进行研究。
miRNA表达与综合征的存在及肝脂肪变性程度相关。miR-122-5p、miR-151a、miR-92a-3p在肥胖患者中上调（分别为4.38倍，<0.01；2.72倍，<0.05；1.34倍，<0.05），并且能够区分肥胖患者与PWS患者（曲线下面积[AUC]=0.81，灵敏度/特异性78/71%）。当根据脂肪变性的存在对组进行分层时，脂肪变性1级的PWS患者中miR-151a-5p、miR-92a-3p、miR-106b-5p和miR-93-5p的表达较低。在脂肪变性1级的组中，miR-151a-5p能显著区分PWS患者与肥胖患者（AUC=0.85，灵敏度/特异性80/85%），miR-106b-5p和miR-93-5p的组合在区分PWS患者不同程度的脂肪变性方面表现更佳（AUC=0.84，灵敏度/特异性93/74%）。
miRNA是更好地对PWS进行分类和特征分析的工具，可为临床情况和脂肪变性程度提供新信息。
