Osteogenesis Imperfecta: Etiology, Epidemiology, Diagnosis, and Controlling!

 | Post date: 2023/04/18 | 
Osteogenesis imperfecta (OI), known as brittle bone disease, is a genetic disorder that prevents the formation of strong bones. Mutation in genes that carry the instructions for making type I collagen leads to OI. Collagen is an important protein that gives structure and strength to bones, so a mutation in collagen-related genes (usually a mutation in the COL1A1 or COL1A2) causes bones to be fragile and prone to breaking. Type I collagen is also in other connective tissues such as tendons, ligaments, lungs, skin, and etc. In addition to the skeletal issues, OI can also affect other organs, such as teeth, eyes, and ears. some people with OI may also experience hearing loss, respiratory problems, and joint laxity. 
Oi is a rare genetic disorder, with an estimated incidence of 1 in 10,000 to 20,000 live birth worldwide. the prevalence of OI varies among different populations and is thought to be higher in certain regions, such as the Middle East and North Africa. Though anyone can be born with OI, people with a family history of the disease are at greater risk of inheriting the disease through an abnormal gene that is passed on from one or both parents. Oi affects males and females equally.
Diagnosis of OI is based on skeletal and extra-skeletal clinical findings. Radiological studies reveal osteoporosis and the presence of Wormian bones. Bone densitometry confirms the low bone mass.
there is no definite treatment for OI. However, he treatment of OI is directed toward the specific symptoms that are apparent in each individual. Treatment is aimed at preventing symptoms, maintaining individual mobility, and strengthening bone and muscle. Attention to nutrition and overall physical and psychological well-being is also very important.

Given the severe clinical manifestations of OI and the limitations of current treatments, a clear unmet medical need exists for treatment of OI. Transplantation of mesenchymal stem cells (MSC) presents a potential new mode of treatment, specifically starting treatment before birth or as early as possible after birth, to prevent irreversible damage

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