From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome

被引：38
|
作者：
Garcia, Isaac E. [1 ]
Bosen, Felicitas [2 ]
Mujica, Paula [1 ]
Pupo, Amaury [1 ]
Flores-Munoz, Carolina [1 ]
Jara, Oscar [1 ]
Gonzalez, Carlos [1 ]
Willecke, Klaus [2 ]
Martinez, Agustin D. [1 ]
机构：
[1] Univ Valparaiso, Fac Ciencias, Ctr Interdisciplinario Neurociencia Valparaiso, Inst Neurociencia, Valparaiso, Chile
[2] Univ Bonn, LIMES Life & Med Sci Inst, D-53115 Bonn, Germany
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2016年 / 136卷 / 03期
关键词：
GJB2 ENCODING CONNEXIN-26; GAP-JUNCTION CHANNEL; KID-SYNDROME; PURINERGIC RECEPTORS; CX26; HEMICHANNELS; SKIN-DISEASE; ATP RELEASE; 26; MUTATION; CELL-DEATH; SENSING RECEPTOR;
D O I：
10.1016/j.jid.2015.11.017
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and hearing abnormalities. KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively. In vitro evidence indicates that KID mutations lead to hyperactive (open) hemichannels, which in some cases is accompanied by abnormal function of gap junction channels. Transgenic mouse models expressing connexin26 KID mutations reproduce human phenotypes and present impaired epidermal calcium homeostasis and abnormal lipid composition of the stratum corneum affecting the water barrier. Here we have compiled relevant data regarding the KID syndrome and propose a mechanism for the epidermal aspects of the disease.
引用
收藏
页码：574 / 583
页数：10
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