Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.

ABSTRACT:

Background

ATAD3A, a nuclear gene encoding the ATAD3A protein, has diverse roles in mitochondrial processes, encompassing mitochondrial dynamics, mitochondrial DNA maintenance, metabolic pathways and inter-organellar interactions. Pathogenic variants in this gene cause neurological diseases in humans with recognizable genotype-phenotype correlations. Yet, gaps in knowledge remain regarding the underlying pathogenesis.

Methods

To further investigate the gene function and its implication in health and disease, we utilized CRISPR/Cas9 genome editing to generate a knockout model of the zebrafish ortholog gene, atad3. We characterized the phenotype of the null model, performed mitochondrial and functional tests, and compared the transcriptome of null embryos to their healthy sibl

SUBMITTER: Ezer S 

PROVIDER: S-EPMC12001410 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature