Pycnodysostosis

Definition:

Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis is characterized by short stature, osteosclerosis, acroosteolysis, separated cranial sutures with open fontanelles, bone fragility, and loss of mandibular angle.

References:

[1]. B D Gelb, et al. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996 Aug 30;273(5279):1236-8. [Content Brief]

[2]. E F Neufeld, et al. Lysosomal storage diseases. Annu Rev Biochem. 1991;60:257-80. [Content Brief]

[3]. Masataka Asagiri, et al. Cathepsin K-dependent toll-like receptor 9 signaling revealed in experimental arthritis. Science. 2008 Feb 1;319(5863):624-7. [Content Brief]

[4]. Qingxiao Zhao, et al. Cathepsin K: a therapeutic target for bone diseases. Biochem Biophys Res Commun. 2009 Mar 20;380(4):721-3. [Content Brief]

[5]. Tetsuya Goto, et al. Cathepsins in the osteoclast. J Electron Microsc (Tokyo). 2003;52(6):551-8. [Content Brief]

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