Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum.

ABSTRACT: Ectopic calcification and dysregulated extracellular matrix remodeling are prominent hallmarks of the complex heterogenous pathobiochemistry of pseudoxanthoma elasticum (PXE). The disease arises from mutations in ABCC6, an ATP-binding cassette transporter expressed predominantly in the liver. Neither its substrate nor the mechanisms by which it contributes to PXE are completely understood. The fibroblasts isolated from PXE patients and Abcc6^-/- mice were subjected to RNA sequencing. A group of matrix metalloproteinases (MMPs) clustering on human chromosome 11q21-23, respectively, murine chromosome 9, was found to be overexpressed. A real-time quantitative polymerase chain reaction, enzyme-linked immunosorbent assay and immunofluorescent staining confirmed these fin

SUBMITTER: Plumers R 

PROVIDER: S-EPMC10135689 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature