A study conducted by researchers at Baylor College of Medicine and collaborating institutions reveals the molecular events leading to osteogenesis imperfecta type V, a form of brittle bone disease caused by a mutation in the gene IFITM5.
Baylor College of Medicine Jun 27 2024
"OI type V is unique because all patients have the exact same mutation in the IFITM5 gene linked to the condition," said first author of the work, Dr. Ronit Marom, assistant professor of molecular and human genetics at Baylor and Texas Children's. "This mutation results in the production of a longer IFITM5 protein; however, the biological function of this protein in bone and why this mutation results in OI were not well understood.
The Ifitm5 mutation in mice disrupts this process. Instead of progressing from cartilage to bone, progenitor cells form overgrown cartilage calluses where new bone should be.
Mutation Osteogenesis Imperfecta Stem Cells Cartilage Children Chronic Chronic Pain Gene Genetic Genetics Kinase Medicine Pain Protein Research
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