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Related Concept Videos

Osteoclasts in Bone Remodeling01:31

Osteoclasts in Bone Remodeling

Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Bone Remodeling01:40

Bone Remodeling

Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

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Related Experiment Video

Updated: Jul 13, 2026

A RANKL-based Osteoclast Culture Assay of Mouse Bone Marrow to Investigate the Role of mTORC1 in Osteoclast Formation
09:37

A RANKL-based Osteoclast Culture Assay of Mouse Bone Marrow to Investigate the Role of mTORC1 in Osteoclast Formation

Published on: March 15, 2018

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

Cristina Sobacchi1, Annalisa Frattini, Matteo M Guerrini

  • 1Institute of Biomedical Technologies, Consiglio Nazionale delle Ricerche, via F. Cervi 93, 20090 Segrate, Italy.

Nature Genetics
|July 17, 2007
PubMed
Summary

Mutations in the RANKL gene cause autosomal recessive osteopetrosis by preventing osteoclast formation. These patients may benefit from RANKL therapy, as their cells responded to exogenous RANKL.

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A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders
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Last Updated: Jul 13, 2026

A RANKL-based Osteoclast Culture Assay of Mouse Bone Marrow to Investigate the Role of mTORC1 in Osteoclast Formation
09:37

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A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders
11:47

A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders

Published on: June 8, 2014

Area of Science:

  • Genetics
  • Immunology
  • Bone Biology

Background:

  • Autosomal recessive osteopetrosis (ARO) is characterized by impaired osteoclast function.
  • Existing treatments like hematopoietic stem cell transplantation are often ineffective for ARO.
  • The role of RANKL in ARO pathogenesis requires further elucidation.

Purpose of the Study:

  • To investigate the genetic basis of osteopetrosis in patients lacking osteoclasts.
  • To determine the functional role of RANKL in these patients.
  • To explore potential therapeutic strategies for ARO.

Main Methods:

  • Genetic sequencing to identify mutations in the RANKL gene.
  • Bone biopsy analysis to assess osteoclast presence and function.
  • In vitro experiments using monocytes to test response to exogenous RANKL.

Main Results:

  • Six individuals with ARO were found to have mutations in the RANKL gene.
  • Bone biopsies from these individuals showed a complete absence of osteoclasts.
  • Monocytes from these patients could form functional osteoclasts upon stimulation with exogenous RANKL.

Conclusions:

  • Mutations in the RANKL gene are a cause of autosomal recessive osteopetrosis with osteoclast deficiency.
  • Hematopoietic stem cell transplantation was ineffective, highlighting the specific defect in RANKL signaling.
  • Exogenous RANKL administration presents a potential therapeutic avenue for these patients.