Disease-related PSS1 mutant impedes the formation and function of osteoclasts.

ABSTRACT: Phosphatidylserine (PS) is an acidic phospholipid that is involved in various cellular events. Heterologous dominant mutations have been identified in the gene encoding PS synthase 1 (PSS1) in patients with a congenital disease called Lenz-Majewski syndrome (LMS). Patients with LMS show various symptoms, including craniofacial/distal-limb bone dysplasia and progressive hyperostosis. The LMS-causing gain-of-function mutants of PSS1 (PSS1^LMS) have been shown to synthesize PS without control, but why the uncontrolled synthesis would lead to LMS is unknown. Here we investigated the effect of PSS1^LMS on osteoclasts (OCs) to elucidate the causative mechanism of LMS. PSS1^LMS did not affect the expression of OC-related genes but inhibited the formation, multinuclea

SUBMITTER: Sugahara S 

PROVIDER: S-EPMC10641532 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature