A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay.

ABSTRACT: Wolfram syndrome (WS) is an ultra-rare progressive neurodegenerative disorder defined by early-onset diabetes mellitus and optic atrophy. The majority of patients harbour recessive mutations in the WFS1 gene, which encodes for Wolframin, a transmembrane endoplasmic reticulum protein. There is limited availability of human ocular and brain tissues, and there are few animal models for WS that replicate the neuropathology and clinical phenotype seen in this disorder. We, therefore, characterised two wfs1 zebrafish knockout models harbouring nonsense wfs1a and wfs1b mutations. Both homozygous mutant wfs1a^-/- and wfs1b^-/- embryos showed significant morphological abnormalities in early development. The wfs1b^-/- zebrafish exhibited a more pronounced neurodegenerat

SUBMITTER: Cairns G 

PROVIDER: S-EPMC8516871 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature