附件半通道抑制与人类遗传性皮肤病

IF 8.3 2区材料科学 Q1 MATERIALS SCIENCE, MULTIDISCIPLINARY

ACS Applied Materials & Interfaces Pub Date : 2024-09-11 DOI:10.1016/j.jid.2024.08.003

Fabio Mammano,Amy S Paller,Thomas W White

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引用次数: 0

摘要

导致角膜炎-鱼鳞病-聋哑（KID）综合征、潮解性外胚层发育不良（HED）或克鲁斯顿综合征等皮肤病的附件蛋白编码基因中的致病变体显示出更强的半通道活性。通过对变异性连接蛋白的生物物理研究得出的机理观点支持这样的假设，即抑制获得性半通道活性可减轻表皮病变。在 HED 和 KID 小鼠模型中使用药理阻断剂和工程 mAbs 证实，半通道抑制是 KID 和 HED 新疗法的一个有希望的靶点。这项工作的启示可能适用于其他基于附件的遗传性皮肤病，在这些疾病中，半通道活性会升高。

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Connexin Hemichannel Inhibition and Human Genodermatoses.

Pathogenic variants in genes encoding connexins that cause skin diseases, such as keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (HED) or Clouston syndrome, display increased hemichannel activity. Mechanistic insights derived from biophysical studies of the variant connexins support the hypothesis that inhibition of the acquired hemichannel activity could alleviate epidermal pathology. Use of pharmacological blockers and engineered mAbs in mouse models of HED and KID confirm that hemichannel inhibition is a promising target for new therapeutic approaches to KID and HED. Insights from this work could apply to other connexin-based genetic skin diseases in which hemichannel activity is elevated.

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来源期刊

ACS Applied Materials & Interfaces 工程技术-材料科学：综合

CiteScore

16.00

自引率

6.30%

发文量

4978

审稿时长

1.8 months

期刊介绍： ACS Applied Materials & Interfaces is a leading interdisciplinary journal that brings together chemists, engineers, physicists, and biologists to explore the development and utilization of newly-discovered materials and interfacial processes for specific applications. Our journal has experienced remarkable growth since its establishment in 2009, both in terms of the number of articles published and the impact of the research showcased. We are proud to foster a truly global community, with the majority of published articles originating from outside the United States, reflecting the rapid growth of applied research worldwide.