Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disorder characterized by bones that break easily, often with little or no apparent cause. This condition results from mutations in genes responsible for producing collagen, a protein that strengthens and supports many tissues in the body, including bones. OI can vary widely in severity; some individuals may experience only a few fractures throughout their life, while others may have hundreds. Symptoms can also include loose joints, muscle weakness, blue sclerae (whites of the eyes), hearing loss, and respiratory problems. Treatment focuses on managing symptoms, preventing fractures, and maximizing mobility. This may include physical therapy, medications to increase bone density, surgical procedures to insert rods into bones, and careful monitoring of respiratory function. Despite its challenges, many people with OI lead productive lives thanks to advances in medical care and support.
Problem:
Where does the mutation that causes osteogenesis imperfecta first occur?
A) Collagen gene
B) Collagen transcript
C) Collagen polypeptide
D) Collagen triple-helix
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