ABSTRACT
Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11.
Subject(s)
Cell Line , Hereditary Central Nervous System Demyelinating Diseases , Pluripotent Stem Cells , Humans , Male , Child , Fibroblasts/pathology , Hereditary Central Nervous System Demyelinating Diseases/genetics , Hereditary Central Nervous System Demyelinating Diseases/pathology , Pluripotent Stem Cells/pathologyABSTRACT
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.