Trehalose extricates impaired mitochondrial and autophagy dysregulation in patient iPSC-derived macular corneal dystrophy disease model.

ABSTRACT:

Background

Patient-derived induced pluripotent stem cell (iPSCs) represents a powerful tool for elucidating the underlying disease mechanisms. Macular corneal dystrophy (MCD) is an intractable and progressive bilateral corneal disease affecting the corneal stroma due to mutation/s in carbohydrate sulfotransferase 6 (CHST6) gene. The underlying molecular mechanisms leading to MCD are unclear due to a lack of human contextual model and limited access to affected corneal stromal keratocytes (CSKs) from MCD patients. This has restricted the current treatment option for MCD to restorative corneal transplantation thereby lending itself to the use of iPSCs.

Methods

induced pluripotent stem cells (iPSCs) were generated from two MCD patients and a healthy participant by senai virus b

SUBMITTER: Nayak D 

PROVIDER: S-EPMC11622490 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature