Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9.

ABSTRACT: X-linked adrenoleukodystrophy (X-ALD) is a common peroxisomal disorder caused by mutations in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs). This progressive neurodegenerative disease manifests in three primary forms: childhood-acquired cerebral demyelination (CALD), adult myelopathy (AMN), and primary adrenal cortical insufficiency. Bone marrow transplantation effectively halts disease progression only in the early stages of CALD. A thorough investigation of the pathophysiology of X-ALD has been hampered by the lack of a reliable animal model. Valid animal models of X-ALD are urgently needed. To address this, we used CRISPR-Cas9 technology to knock out the ABCD1 gene and established a novel rabbit model of X-ALD. The mutants exhibited el

SUBMITTER: Zhou X 

PROVIDER: S-EPMC11872110 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature