Osteopetrosis: genetics, treatment and new insights into osteoclast function.
Rozzano, Italy. In Nat Rev Endocrinol, 2013
The genetic basis of this disease is now largely uncovered: mutations in TCIRG1, CLCN7, OSTM1, SNX10 and PLEKHM1 lead to osteoclast-rich ARO (in which osteoclasts are abundant but have severely impaired resorptive function), whereas mutations in TNFSF11 and TNFRSF11A lead to osteoclast-poor ARO.
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Segrate, Italy. In Calcif Tissue Int, 2009
Historically, osteopetrosis due to both these mechanisms was found in spontaneous and artificially created mouse mutants, but the first five genes identified in human ARO (CA-II, TCIRG1, ClCN7, OSTM1, and PLEKHM1) were all involved in the effector function of mature osteoclasts, being linked to acidification of the cell/bone interface or to intracellular processing of the resorbed material.