Genetic disorder sheds light on enzyme's role in bone metabolism

Pycnodysostosis, a condition from which the painter Henri de Toulouse-Lautrec suffered, is a genetic disease characterized by short stature. This rare disease, surprisingly, provides a window into how joints are destroyed by arthritis. It is caused by deficiency of an enzyme known as cathepsin K which hampers osteoclasts (the cells that break down bone in bone modeling and repair), leading to poor bone resorption and dense, brittle bones.

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