Photo Credit: Meletios Verras
The following is a summary of “Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticum,” published in the September 2024 issue of Ophthalmology by Viheriälä et al.
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that causes retinal complications due to calcification of Bruch’s membrane beneath retinal pigment epithelial cells (RPE), leading to macular degeneration.
Researchers conducted a prospective study to explore potential disease mechanisms of macular degeneration in PXE using a novel human induced pluripotent stem cell (hiPSC) model for RPE.
They generated 2 hiPSC lines from a patient with the common homozygous mutation [c.3421C > T, p.Arg1141X] in the [ABCC6] gene and compared the molecular and functional characterization of PXE-specific RPE cells to healthy controls. The study focused on assessing epithelial barrier function and phagocytosis activity.
The results showed that PXE-specific hiPSC lines were successfully established from a skin biopsy, regardless of the skin-related disease phenotype. RPE cells from patients with PXE demonstrated increased pigmentation and reduced epithelial barrier function as well as lower phagocytosis activity compared to controls.
The study concluded that RPE-dependent factors, including impaired barrier function and phagocytosis, might contribute to individual vulnerability to retinal macular degeneration in PXE. Validation of these findings with additional people diagnosed with PXE is needed.
Source: onlinelibrary.wiley.com/doi/full/10.1155/2024/6939920
