The Adaptive Immune System: A New Pseudoxanthoma Elasticum Protagonist?

Alterations in ABCC6 underpin pseudoxanthoma elasticum (PXE), a rare heritable disorder characterized by the degeneration of elastic fibers in the skin, eyes, and cardiovascular system. Given that ABCC6 is predominantly expressed in hepatocytes, research over the past 2 decades has traditionally focused on a liver-centric hypothesis underpinning PXE. However, an alternate cellular hypothesis in which resident cells in affected tissues play a prominent role has recently gained traction. Using a multipronged approach through histological, molecular, and pathological assessment, the study by Brampton et  al (2024) highlights for the first time a direct contribution of bone marrow–derived ABCC6, revealing a new axis through which immune cells dramatically influence the development of the calcification phenotype in PXE.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Commentary Source Type: research