Transthyretin variant amyloidosis (ATTRv) is a rare autosomal dominant disease characterized by the accumulation of amyloid in many organs, mostly causing a sensory-motor neuropathy, cardiomyopathy, and dysautonomia. The aim of the study was to report microRNAs (miRNAs) expression profile identified in the blood of ATTRv patients. Ten ATTRv patients, 10 asymptomatic carriers of transthyretin variant (TTRv), 10 patients with Charcot-Marie-Tooth (CMT) disease, and 10 healthy controls were studied. Human Schwann cells cultures were used to study the regulatory effects of miR-150-5p on the expression of cAMP response element-binding protein (CREB), brain-derived neurotrophic factor (BDNF), and nerve growth factor (NGF). ATTRv patients had 33 miRNAs up-regulated and 48 down-regulated versus healthy controls; 9 miRNAs were up-regulated and 30 down-regulated versus CMT patients; 19 miRNAs were up-regulated and 38 down-regulated versus asymptomatic TTRv carriers. Twelve out of the 19 upregulated miRNAs had a fold increase higher than 100. The validation experiment indicated miR-150-5p as a valuable biomarker to differentiate ATTRv patients from asymptomatic TTRv carriers (AUC: 0.9728; p < 0.0001). Schwann cells culture model demonstrated that miR-150-5p is a powerful negative regulator of CREB, BDNF, and NGF genes. Identification of deregulated miRNAs can help in understanding the complex pathomechamism underlying the development of ATTRv and related multisystemic pathology. Further investigations are needed on the role of circulating miR-150-5p to predict the shift of TTRv carriers from an asymptomatic status to symptoms appearance.

运甲状腺素蛋白变体淀粉样变性病（ATTRv）是一种罕见的常染色体显性疾病，其特征是淀粉样蛋白在许多器官中蓄积，主要引起感觉运动神经病，心肌病和自主神经异常。该研究的目的是报告在ATTRv患者血液中鉴定出的microRNA（miRNA）表达谱。研究了10例ATTRv患者，10例无症状的运甲状腺素蛋白变体（TTRv），10例患有Charcot-Marie-Tooth（CMT）病的患者以及10例健康对照者。人类雪旺氏细胞培养物用于研究miR-150-5p对cAMP反应元件结合蛋白（CREB），脑源性神经营养因子（BDNF）和神经生长因子（NGF）表达的调节作用。与健康对照组相比，ATTRv患者的miRNA上调了33个，下调了48个。与CMT患者相比，有9个miRNA上调，有30个下调。与无症状的TTRv携带者相比，有19种miRNA被上调，而有38种被下调。19个上调的miRNA中有12个的折叠倍数高于100。验证实验表明，miR-150-5p是区分ATTRv患者和无症状TTRv携带者的宝贵生物标志物（AUC：0.9728；p<0.0001）。Schwann细胞培养模型表明，miR-150-5p是CREB，BDNF和NGF基因的强大负调控因子。鉴定失调的miRNA有助于理解ATTRv和相关多系统病理学发展的复杂病理机制。还需要进一步研究循环miR-​​150-5p的作用，以预测TTRv携带者从无症状状态向症状出现的转变。