引起Olmsted综合征的TRPV3突变体诱导细胞粘附受损和无功能溶酶体

IF 3.3 3区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
M. Yadav, C. Goswami
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引用次数: 17

摘要

TRPV3是一种非选择性阳离子通道,在多种生理功能中发挥重要作用。它可以被生理温度和选择性的内源和外源化合物激活。TRPV3是角化细胞中参与Ca2+信号传导的关键离子通道之一,因此参与皮肤相关功能。近年来,TRPV3自然发生的突变,即G573A、G573S、G573C和W692G被发现,这些突变与奥姆斯泰德综合征(OS)等皮肤疾病的病理生理状况的发生有关。我们的定性和定量数据表明,这些自然发生的TRPV3突变主要局限于内质网。os突变体的表达导致囊泡运输受损,导致这些突变体和其他膜蛋白的表面定位减少。os突变体还引起细胞粘附性降低、分布改变和溶酶体数量减少。我们的数据证实TRPV3是一种溶酶体蛋白,这表明奥姆斯特德综合征是一种溶酶体疾病。这些发现可能在角化细胞功能,皮肤变性和皮肤癌的背景下具有广泛的含义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes
ABSTRACT TRPV3 is a non-selective cationic channel and is important for several physiological functions. It can be activated by physiological temperature and selective endogenous and exogenous compounds. TRPV3 is one of the key ion channel involved in Ca2+-signaling in keratinocyte and thus involved in skin-related functions. Recently, naturally occurring mutations in TRPV3, namely G573A, G573S, G573C and W692G have been detected which are linked with the development of pathophysiological conditions such as Olmsted Syndrome (OS) and other skin disorders. Our qualitative and quantitative data suggests that these naturally occurring TRPV3 mutants are mainly restricted in the ER. Expression of OS-mutants cause impaired vesicular trafficking resulting reduced surface localization of these mutants and other membrane proteins too. OS-mutants also cause reduced cell adhesion, altered distribution and less number of lysosomes. Our data confirms that TRPV3 is a lysosomal protein suggesting that Olmsted Syndrome is a lysosomal disorder. These findings may have a broad implication in the context of keratinocyte functions, skin-degeneration and in skin-cancer.
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来源期刊
Channels
Channels 生物-生化与分子生物学
CiteScore
5.90
自引率
0.00%
发文量
21
审稿时长
6-12 weeks
期刊介绍: Channels is an open access journal for all aspects of ion channel research. The journal publishes high quality papers that shed new light on ion channel and ion transporter/exchanger function, structure, biophysics, pharmacology, and regulation in health and disease. Channels welcomes interdisciplinary approaches that address ion channel physiology in areas such as neuroscience, cardiovascular sciences, cancer research, endocrinology, and gastroenterology. Our aim is to foster communication among the ion channel and transporter communities and facilitate the advancement of the field.
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