Snx10: a newly identified locus associated with human osteopetrosis

IBMS BoneKEy 10, Article number: 421 (2013) | doi:10.1038/bonekey.2013.155; published online 2 October 2013Commentary on: Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, DeMoerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Ku¨hl J-S, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A,Vezzoni P, Villa A, Sobacchi C. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variableclinical severity. J Bone Miner Res 2012;27(2):352–359.The health and economic impact of osteoporosis, a diseasecharacterized by excessive osteoclastic bone resorption,continues to make studies of bone resorption by osteoclasts acriticallyimportantresearcharea.Mostofwhatweknowaboutthe normal function of the osteoclast comes, paradoxically,from the study of osteopetrosis, a heterogeneous geneticdiseasecharacterizedbyosteoclastfailure.