Loss of OCRL increases ciliary PI(4,5)P₂ in Lowe oculocerebrorenal syndrome.

ABSTRACT: Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P₂, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane is poorly understood. Here, we demonstrate that cilia from Lowe syndrome patient fibroblasts exhibit increased levels of PI(4,5)P₂ and decreased levels of PI4P. In particular, subcellular distribution of PI(4,5)P₂ build-up was observed at the transition zone. Accumulation of ciliary PI(4,5)P₂ was p

SUBMITTER: Prosseda PP 

PROVIDER: S-EPMC5665444 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature