The genetic landscape of osteogenesis imperfecta: mutational mechanisms and therapeutic targets

• DOI: 10.30574/gscbps.2024.27.3.0243
• Publication Date: 2024-07-01T04:54:48Z
• Authors: Camila Lozano-Ar...; Mildreth Velázqu...; Angélica Lizzeth...; Tania Paola Núñe...; Brissia Lazalde
• Keywords: Mutation; Bone fragility; Osteogenesis imperfecta; Type I collagen; Brittle bone disease

Osteogenesis imperfecta is colloquially known as brittle bone disease because it an inherited characterized by a connective tissue disorder that causes decreased mass, increased fragility and abnormalities in skeletal structure. This caused mutation the type I collagen genes, specifically COL1A1 COL1A2, resulting variety of clinical manifestations ranging from mild to lethal. The impact on quality life patients with OI can be complicated, which why they need multidisciplinary management strategies including orthopedic care, physical therapy, pain surgical interventions.