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Related Concept Videos

iPS Cell Differentiation01:22

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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
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Connective tissue growth in a mouse model of Kosaki overgrowth syndrome is limited by STAT1.

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Skeletal stem cell fate defects caused by Pdgfrb activating mutation.

Hae Ryong Kwon1, Jang H Kim1,2, John P Woods1,2

  • 1Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.

Development (Cambridge, England)
|November 5, 2021
PubMed
Summary

Gain-of-function mutations in platelet-derived growth factor receptor beta (PDGFRβ) disrupt skeletal stem cells (SSCs), leading to bone wasting or overgrowth disorders. This study reveals intrinsic PDGFRβ mutation effects on SSCs, promoting cartilage over bone formation.

Keywords:
ChondrogenesisKosaki overgrowth syndromeMouseOsteogenesisOsteopeniaPenttinen syndromePlatelet-derived growth factor receptor betaSingle-cell RNA-sequencingSkeletal stem cells

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Area of Science:

  • Skeletal biology
  • Stem cell research
  • Connective tissue disorders

Background:

  • Autosomal dominant PDGFRβ gain-of-function mutations cause skeletal and connective tissue abnormalities.
  • The cellular origin of these PDGFRβ-related disorders is currently unknown.

Purpose of the Study:

  • To investigate the cellular and molecular mechanisms underlying PDGFRβ gain-of-function mutations in skeletal stem cells (SSCs).
  • To determine the impact of PDGFRβ mutations on SSC differentiation and skeletal development.

Main Methods:

  • Isolation and culture of mouse skeletal stem cells (SSCs) with PDGFRβ gain-of-function mutations.
  • Single-cell RNA transcriptomics to analyze gene expression changes in mutant SSCs.
  • In vitro differentiation assays to assess osteogenic and chondrogenic potential.
  • Phenotypic analysis of mice with PDGFRβ gain-of-function mutations.

Main Results:

  • PDGFRβ gain-of-function mutations in SSCs lead to defects in colony formation, mirroring mouse wasting or overgrowth phenotypes.
  • Mutant SSCs show altered osteogenic and chondrogenic precursor development, with impaired osteogenesis and increased chondrogenic marker expression (e.g., Sox9).
  • Mice with PDGFRβ mutations exhibit osteopenia, linked to increased STAT5 phosphorylation and overexpression of Igf1 and Socs2, suggesting activation of the STAT5-IGF1 axis.

Conclusions:

  • PDGFRβ gain-of-function mutations directly impact SSCs, causing intrinsic cellular changes that favor chondrogenesis over osteogenesis.
  • These intrinsic SSC changes result in osteopenic skeletal phenotypes observed in mice.
  • The study identifies PDGFRβ mutations as a cause of skeletal disorders through altered SSC behavior and differentiation pathways.