Mechanisms and enzymes involved in Osteogenesis imperfecta

Question 1

What are the mechanisms and enzymes involved in Osteogenesis imperfecta?

Answer 1

• OI is caused by gene defects in COL1A1 and COL1A2; most common form is autosomal dominant with decreased production of normal type 1 collagen.
• Can get macrocephaly, poor skull mineralization, short extremities and misshaped long bones, fx’s during birth.