Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing & Hong Kong, China.
Spine (Phila Pa 1976). 2020 Feb 1;45(3):E120-E125. doi: 10.1097/BRS.0000000000003224.
A case-control study.
This study aimed to investigate the potential role of PIEZO2 gene in the development of AIS.
Mutations of PIEZO2 gene have been reported to be associated with progressive scoliosis and impaired proprioception. Previous studies showed that patients with AIS may have impaired proprioception. However, there is lack of knowledge concerning the mechanism underlying the proprioception of AIS patients and the role of PIEZO2 gene in the etiology of AIS.
Proprioception tests were performed in both AIS patients and age-matched healthy controls. Based on the falling risk scores, AIS patients were divided into impaired proprioception group and unimpaired proprioception group. Paraspinal muscle was collected from 34 AIS patients during surgery. The tissue expression of PIEZO2 was compared between the impaired group and the unimpaired group. In addition, the average number of muscle fibers in the muscle spindle was compared between the two groups.
Proprioception test showed that patients had significantly higher falling index (41.7 ± 16.5 vs. 11.3 ± 8.3, P = 0.004). In addition, the expression of PIEZO2 gene was remarkably decreased in the impaired group (0.51 ± 0.24 vs. 1.00 ± 0.33, P = 0.04). The average number of muscle fibers in the muscle spindle was significantly decreased in AIS patients of the impaired group than those of the unimpaired group (2.2 ± 1.3 vs. 3.5 ± 2.1, P = 0.04). PIEZO2 expression level was remarkably correlated with the average number of muscle fibers in the muscle spindle (r = 0.352, P = 0.04).
Proprioception is remarkably impaired in patients with AIS. Abnormal expression of PIEZO2 may play a role in AIS via altered proprioception and number of muscle fibers in the muscle spindles. Further investigation is warranted to illustrate the mechanism regulating PIEZO2 expression in AIS.
病例对照研究。
本研究旨在探讨 PIEZO2 基因在 AIS 发病机制中的潜在作用。
已有研究报道 PIEZO2 基因突变与进行性脊柱侧凸和本体感觉受损有关。既往研究表明 AIS 患者可能存在本体感觉受损。然而,目前对于 AIS 患者本体感觉的潜在机制以及 PIEZO2 基因在 AIS 发病机制中的作用知之甚少。
对 AIS 患者和年龄匹配的健康对照组进行本体感觉测试。根据跌倒风险评分,AIS 患者分为本体感觉受损组和本体感觉未受损组。在手术过程中,从 34 例 AIS 患者的脊柱旁肌肉中采集组织。比较受损组和未受损组之间 PIEZO2 的组织表达。此外,比较两组肌梭中肌纤维的平均数量。
本体感觉测试显示,患者的跌倒指数明显更高(41.7±16.5 比 11.3±8.3,P=0.004)。此外,受损组 PIEZO2 基因的表达明显降低(0.51±0.24 比 1.00±0.33,P=0.04)。与未受损组相比,本体感觉受损组 AIS 患者肌梭中的肌纤维平均数量明显减少(2.2±1.3 比 3.5±2.1,P=0.04)。PIEZO2 表达水平与肌梭中肌纤维的平均数量呈显著正相关(r=0.352,P=0.04)。
AIS 患者的本体感觉明显受损。PIEZO2 的异常表达可能通过改变本体感觉和肌梭中的肌纤维数量在 AIS 中发挥作用。需要进一步的研究来阐明调节 AIS 中 PIEZO2 表达的机制。
4 级