From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.
From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.
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从疾病描述和基因发现到功能性细胞途径：TMCO1长达十年的旅程。
DOI：
10.3389/fgene.2021.652400
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发表时间：
2021
影响因子：
3.7
通讯作者：
Wang H
中科院分区：
文献类型：
--
作者：
Batchelor-Regan H;Xin B;Zhou A;Wang H
十年过去了，因为跨膜卷曲螺旋结构域1（TMCO 1）缺陷综合征被确定在11个未确诊的患者在俄亥俄州东北部的旧秩序阿米什人，一种疾病的特点是一个独特的颅面畸形，骨骼异常和全球发展迟缓。来自不同种族群体的27名患者报告了致病性TMCO 1变体，目前已确认其可导致面胸发育不良（CFTD）。以前未表征的TMCO1在疾病中的意义已经引发了10年的旅程，以了解TMCO1蛋白在Ca2+稳态中的功能。TMCO 1是一种ER Ca2+泄漏通道，其通过新的Ca2+负载激活的Ca2+机制在ER“过载”时促进Ca2+泄漏。这篇简短的综述汇集了自发现TMCO 1缺陷以来所取得的临床和科学进展，包括扩大的表型、对病理生理学的理解以及对TMCO 1缺陷综合征患者管理的影响。
A decade has passed since transmembrane coiled-coil domains 1 (TMCO1) defect syndrome was identified in 11 undiagnosed patients within the Old Order Amish of Northeastern Ohio—a disorder characterized by a distinctive craniofacial dysmorphism, skeletal anomalies and global developmental delay. Twenty seven patients, from diverse ethnic groups, have been reported with pathogenic TMCO1 variants now recognized to cause cerebrofaciothoracic dysplasia (CFTD). The implication of previously uncharacterized TMCO1 within disease has instigated a 10-year journey to understand the function of TMCO1 protein in Ca2+ homeostasis. TMCO1 is an ER Ca2+ leak channel which facilitates Ca2+ leak upon ER “overload” through the novel Ca2+ load activated Ca2+ mechanism. This mini-review brings together the clinical and scientific advances made since the discovery of TMCO1 deficiency in disease, including broadened phenotype, understanding of pathophysiology, and implications to patient management of TMCO1 defect syndrome.
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