A rare genetic disorder causes the hard matrix of a certain connective tissue to become less rigid, leading to frequent bone fractures. What is the most likely explanation for this observation?
A defect in type I collagen due to Mutation in COL1A1 or COL1A2 genes
Bone matrix gets its strength from type I collagen fibres, on which calcium and phosphorus salts are laid down.
Mutations in the COL1A1 or COL1A2 genes, which code for type I collagen, produce faulty collagen, as in the rare disorder osteogenesis imperfecta ('brittle bone disease').
The bone matrix then loses its normal rigidity and the bones fracture easily.
Hence, the answer is a defect in type I collagen due to mutation in COL1A1 or COL1A2 genes.
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