Final answer:
Type II collagen mutations are known to cause collagen diseases like Osteogenesis Imperfecta, resulting in fragile bones and related complications such as bone deformities and breathing difficulties due to spine curvature. Effective management and treatment are essential to improve quality of life for affected individuals.
Step-by-step explanation:
Type II collagen mutations alter the properties of cartilage tissue and are known to cause collagen diseases such as Osteogenesis Imperfecta (brittle bone disease), which is characterized by bones that easily bend or fracture.
Mutations in the gene substituting bulky side chain amino acids for glycine can lead to insufficient production of good quality collagen, essential for strong bones. The impacts of such mutations are severe, often resulting in symptoms like bone deformities, short stature, and in worst cases, patients with Type-II can die in utero due to the severity of the condition.
Furthermore, those with more severe forms of the disease sustain significantly more fractures, leading to complications such as curvature of the spine, which in turn can affect breathing due to lung compression. Other parts of the body that rely on collagen, such as skin and muscles, can also be adversely affected, leading to fragile skin, weak muscles, and other related symptoms.
As such, proper diagnosis and treatment, which may include safe exercises and therapies to minimize fractures and maximize mobility, are crucial for managing the condition.