Todt Ingo, Hennies Hans Christian, Basta Dietmar, Ernst Arne
Department of Otolaryngology at UKB, Hospital of the University of Berlin, Germany.
Neuroreport. 2005 Aug 1;16(11):1179-81. doi: 10.1097/00001756-200508010-00009.
The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.
内耳的缝隙连接网络在耳蜗离子稳态中起重要作用。连接蛋白26的突变可导致不同类型的听力损失甚至耳聋。因此，据推测，连接蛋白26的突变会使人类前庭器官的缝隙连接功能受损。在一项前瞻性、非随机研究中，对一名连接蛋白26突变纯合子和六名杂合子携带者的半规管和耳石器官的功能状态进行了评估。7名患者中有5名（71.4%）出现病理性前庭诱发肌源性电位，表明球囊功能丧失。椭圆囊功能（通过主观触觉垂直测试）和半规管功能（通过记录前庭眼反射测试）基本正常。因此，连接蛋白26突变可能与前庭感受器的球囊缺陷有关。
