The Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models.

ABSTRACT: One of the hallmarks of Osteogenesis Imperfecta (OI) is phenotypic variability among individuals with the same mutation. The aim of our study is to investigate the under-explored role of osteoblast differentiation in OI phenotypic variability by using human and murine OI osteoblasts. This is the first comparative study of osteoblasts from OI patients vs. healthy pediatric controls. We investigated osteoblasts carrying COL1A1 substitutions Gly352Ser and Gly589Ser, each expressed in two unrelated patients differing in phenotypic severity. Osteoblasts from type III OI patients with both mutations deposited significantly less mineral vs. type IV. RNA-Seq showed osteoblasts from type IV OI patients with different mutations had downregulated mitochondrial pathways, while osteoblasts from

SUBMITTER: Jovanovic M 

PROVIDER: S-EPMC12692505 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature