The genetic landscape of osteogenesis imperfecta: mutational mechanisms and therapeutic targets
1 Faculty of Medicine and Nutrition, Juarez University of Durango State, Durango, Dgo. Mexico.
2 Department of Genetics, Faculty of Medicine and Nutrition, Juarez University of Durango State, Durango, Dgo. Mexico.
Review Article
GSC Biological and Pharmaceutical Sciences, 2024, 27(03), 185–194.
Article DOI: 10.30574/gscbps.2024.27.3.0243
Publication history:
Received on 09 May 2024; revised on 23 June 2024; accepted on 26 June 2024
Abstract:
Osteogenesis imperfecta is colloquially known as brittle bone disease because it is an inherited disease characterized by a connective tissue disorder that causes decreased bone mass, increased bone fragility and abnormalities in skeletal structure.
This disease is caused by a mutation in the type I collagen genes, specifically COL1A1 and COL1A2, resulting in a variety of clinical manifestations ranging from mild to lethal.
The impact on the quality of life of patients with OI can be complicated, which is why they need multidisciplinary management strategies including orthopedic care, physical therapy, pain management and surgical interventions.
Keywords:
Osteogenesis imperfecta; Mutation; Type I collagen; Brittle bone disease; Bone fragility
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Copyright © 2024 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0
