Department of Biosignaling and Radioisotope Experiment, Interdiscipnary Center for Science Research, Organization for Research and Academic Information, Shimane University.
Department of Legal Medicine, Faculty of Medicine, Shimane University.
Biol Pharm Bull. 2019;42(9):1596-1599. doi: 10.1248/bpb.b19-00168.
Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers-Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initially, it was reported that there is a small subset of patients with JHS/hEDS who have haploinsufficiency of tenascin-X (TNX). However, the relationship between TNXB and JHS/hEDS has not been reported at all afterwards. EDS was reclassified into thirteen types in 2017, and the causative gene of JHS/hEDS remained to be identified. Therefore, in this study in order to determine whether JHS/hEDS can be diagnosed by the concentrations of serum form of TNX (sTNX), we measured the concentrations of sTNX in 17 JHS/hEDS patients. The sTNX concentrations in half of the JHS/hEDS patients were significantly lower than those in healthy individuals. No mutations, insertions or deletions were detected in the TNX exon sequence of the JHS/hEDS patients except for one in patient. That patient has a heterozygous mutation. A correlation between sTNX concentration and mutation of the TNXB genomic sequence was not found in the JHS/hEDS patients. These results indicate that the decrease in sTNX concentration could be used as a risk factor for JHS/hEDS.
关节过度活动综合征（JHS）（也称为过度活动型埃勒斯-当洛斯综合征，hEDS）是一种遗传性结缔组织疾病，其特征为广泛的关节过度活动、慢性疼痛、疲劳和轻微的皮肤变化。最初，有报道称，一小部分 JHS/hEDS 患者存在 tenascin-X（TNX）单倍体不足。然而，此后并未报道 TNXB 与 JHS/hEDS 之间的关系。2017 年，EDS 被重新分类为 13 种类型，JHS/hEDS 的致病基因仍未确定。因此，在本研究中，为了确定血清形式的 TNX（sTNX）浓度是否可以诊断 JHS/hEDS，我们测量了 17 例 JHS/hEDS 患者的 sTNX 浓度。一半的 JHS/hEDS 患者的 sTNX 浓度明显低于健康个体。除了一名患者外，JHS/hEDS 患者的 TNX 外显子序列中未检测到突变、插入或缺失。该患者存在杂合突变。在 JHS/hEDS 患者中，未发现 sTNX 浓度与 TNXB 基因组序列突变之间存在相关性。这些结果表明，sTNX 浓度降低可作为 JHS/hEDS 的风险因素。
