Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2.

ABSTRACT: Primary cilia dysfunction underlies a group of severe disorders known as ciliopathies. These include Bardet-Biedl syndrome (BBS), which is caused by mutations in BBS genes encoding for components of ciliary protein complexes essential for the assembly and maintenance of primary cilia. As in most ciliopathies, a hallmark feature of BBS is the development of cystic kidney disease. However, the molecular mechanisms linking ciliary dysfunction to cystogenesis remain incompletely understood. Here, we show that Bbs8^-/- mice develop late-onset cystic kidney disease accompanied by increased regulated cell death and fibrosis. While the number and length of cilia are not affected, loss of BBS8 reduces K40 acetylation of α-tubulin within primary cilia, compromising ciliary stability

SUBMITTER: Kieckhofer E 

PROVIDER: S-EPMC12262213 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature