Gjervan Sophia C, Ozgoren Oguz K, Gow Alexander, Stockler-Ipsiroglu Sylvia, Pouladi Mahmoud A
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, United States.
Front Cell Neurosci. 2024 Jan 17;17:1344090. doi: 10.3389/fncel.2023.1344090. eCollection 2023.
Claudin-11 plays a critical role in multiple physiological processes, including myelination, auditory function, and spermatogenesis. Recently, stop-loss mutations in have been identified as a novel cause of hypomyelinating leukodystrophy (HLD22). Understanding the multifaceted roles of claudin-11 and the potential pathogenic mechanisms in HLD22 is crucial for devising targeted therapeutic strategies. This review outlines the biological roles of claudin-11 and the implications of claudin-11 loss in the context of the null mouse model. Additionally, HLD22 and proposed pathogenic mechanisms, such as endoplasmic reticulum stress, will be discussed.
Claudin-11在多个生理过程中发挥关键作用，包括髓鞘形成、听觉功能和精子发生。最近，已确定Claudin-11的截短突变是低髓鞘性脑白质营养不良（HLD22）的新病因。了解Claudin-11的多方面作用以及HLD22中的潜在致病机制对于制定靶向治疗策略至关重要。本综述概述了Claudin-11的生物学作用以及Claudin-11缺失在Claudin-11基因敲除小鼠模型中的影响。此外，还将讨论HLD22及其提出的致病机制，如内质网应激。
