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Cellular Mechanisms of Mutant Connexins in Skin Disease and Hearing Loss

机译：皮肤疾病和听力损失中突变连接蛋白的细胞机制

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摘要

It has been demonstrated that distinct germline mutations within four connexin (Cx) genes, Cx26, Cx30, Cx31, and Cx30.3, underlie hearing loss and/or epidermal disease. Here, we describe two Cx26 mutations associated with skin disease. With the goal of understanding the mechanism(s) of Cx-associated human disease and how different mutations within the same Cx protein can result in different disorders, we performed a number of functional analyses investigating the cellular effects of disease-associated Cx mutations in keratinocytes and other cell types. Epidermal disease-associated proteins studied were primarily cytoplasmic with limited trafficking ability. FACS analysis of WT and mutant EGFP-Cx31 transfected keratinocytes revealed a high percentage of cell death associated with the skin disease-associated mutant Cx31 proteins.
机译：已经证明，四个连接蛋白（Cx）基因Cx26，Cx30，Cx31和​​Cx30.3中的不同种系突变是听力损失和/或表皮疾病的基础。在这里，我们描述了与皮肤疾病相关的两个Cx26突变。为了了解与Cx相关的人类疾病的机制以及同一Cx蛋白内的不同突变如何导致不同的疾病，我们进行了许多功能分析，研究了与疾病相关的Cx突变在角质形成细胞中的细胞作用。和其他单元格类型。研究的表皮疾病相关蛋白主要是细胞质，具有有限的运输能力。 WT和突变的EGFP-Cx31转染的角质形成细胞的FACS分析表明，与皮肤病相关的突变Cx31蛋白相关的细胞死亡比例很高。

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