Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility

Sophia C Gjervan; Oguz K Ozgoren; Alexander Gow; Sylvia Stockler-Ipsiroglu; Mahmoud A Pouladi

doi:10.3389/fncel.2023.1344090

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility

Front Cell Neurosci. 2024 Jan 17:17:1344090. doi: 10.3389/fncel.2023.1344090. eCollection 2023.

Authors

Sophia C Gjervan¹, Oguz K Ozgoren¹, Alexander Gow², Sylvia Stockler-Ipsiroglu^{3

4}, Mahmoud A Pouladi¹

Affiliations

¹ 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.
² Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, United States.
³ Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
⁴ Division of Biochemical Genetics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.

Abstract

Claudin-11 plays a critical role in multiple physiological processes, including myelination, auditory function, and spermatogenesis. Recently, stop-loss mutations in CLDN11 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 Cldn11 null mouse model. Additionally, HLD22 and proposed pathogenic mechanisms, such as endoplasmic reticulum stress, will be discussed.

Keywords: HLD22; claudin-11; fertility; hearing; leukodystrophy; myelin; tight junctions.

Publication types

Review

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. SG was supported by a BC Graduate Scholarship. AG was supported by grant from Wayne State University (Boost Award). MP was supported by the BC Children's Hospital Research Institute Investigator Grant Award (IGAP), a Scholar Award from the Michael Smith Health Research BC, and a grant from the Rare Diseases: Models and Mechanism Network (210327-001-001).