The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency.

Cell Cycle
Annalisa FrattiniCristina Sobacchi

Abstract

Genetic dissection of human recessive osteopetroses (ARO) has identified specific subsets due to a defect in molecules linked to the effector function of mature osteoclasts. While an impairment in osteoclast differentiation in mouse leads to osteopetrosis, the four genes identified so far in classical human ARO (TCIRG1, CLCN7, OSTM1 and PLEKHM1) are all involved in the resorption and/or intracellular traffic of the minerals solubilised from bone matrix. The recent finding that the RANKL gene is mutated in a subset of ARO patients whose biopsies did not show any osteoclast shows that a differentiation defect can be responsible for human ARO and paves the way to a potential rational therapy of this rare disease by soluble RANKL administration.

Citations

Dec 17, 2008·Calcified Tissue International·Anna VillaCristina Sobacchi
Sep 1, 2009·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Chandrasekaran KrithikaGirish Subhash Shetkar
Jul 9, 2008·American Journal of Human Genetics·Matteo M GuerriniAnnalisa Frattini
Jun 24, 2009·Laboratory Investigation; a Journal of Technical Methods and Pathology·Harry C BlairPaul J Orchard
Sep 26, 2019·Annual Review of Physiology·Natalie A Sims, T John Martin

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