IPSC-Derived Astrocytes to Model Neuroinflammatory and Metabolic Responses in X-linked Adrenoleukodystrophy.

ABSTRACT: X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disorder caused by pathogenic variants in the ABCD1 gene, leading to accumulation of saturated very long chain fatty acids (VLCFA) in body fluids and tissues including brain and spinal cord. In the absence of a clear genotype-phenotype correlation the molecular mechanisms of the fatal cerebral adrenoleukodystrophy (cALD) and the milder adrenomyeloneuropathy (AMN) phenotypes remain unknown. Given our previous evidence of role of astrocytes in the neuroinflammatory response in X-ALD we investigated the metabolic and molecular profiles of astrocytes derived from induced pluripotent stem cells (iPSC). The iPSCs were in turn generated from skin fibroblasts of healthy controls and patients with AMN or cALD. AMN and cALD astro

SUBMITTER: Parasar P 

PROVIDER: S-EPMC10705002 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature