Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From iPSCs of Children With Alexander Disease.

ABSTRACT:

Aims

Alexander disease (AxD) is a leukodystrophy caused by mutations in the astrocytic filament gene GFAP. There are currently no effective treatments for AxD. Previous studies have rarely established AxD models with the patient's original GFAP mutations. In this study, we aimed to explore the morphological and transcriptomic characteristics of GFAP-mutant astrocytes via induced pluripotent stem cell (iPSC) models of AxD.

Methods

Fibroblasts from three AxD children were reprogrammed into iPSCs. Wild-type (WT) and AxD-iPSCs were differentiated into astrocytes. We compared the morphological and transcriptomic differences between WT- and AxD iPSC-derived astrocytes.

Results

Astrocytes induced from AxD-derived iPSCs exhibited the Rosenthal fibers (RFs), the main pathologi

SUBMITTER: Yi H 

PROVIDER: S-EPMC11770893 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature