iPScells for treatment of WS

Publication: diabetesjournals.org | Publication Date: February 13, 2014

Authors: Fumihiko Urano

Wolfram syndrome is a rare autosomal recessive genetic disorder with clinical signs apparent in early childhood. This condition is characterized by childhood-onset diabetes, optic nerve atrophy, deafness, diabetes insipidus, and neurodegeneration, and it results in death in middle adulthood. Genetic and experimental evidence strongly suggest that endoplasmic reticulum (ER) dysfunction is a critical pathogenic component of Wolfram syndrome. However, there is a lack of complete understanding of the pathways and biomarkers involved in the disease process due to the limitations of animal models that do not accurately reflect human patients. As a result, despite the underlying importance of ER dysfunction in Wolfram syndrome, there are currently no therapies that target the ER, a deficiency that points to the urgent need to develop a human cell model of this condition. In this issue, Shang et al. report that this has been successfully accomplished.

Fumihiko Urano; Wolfram Syndrome iPS Cells: The First Human Cell Model of Endoplasmic Reticulum Disease. Diabetes 1 March 2014; 63 (3): 844–846. Retrieved February 13, 2024, from https://doi.org/10.2337/db13-1809.