Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects
2006

Defective ALK5 Signaling in Neural Crest Cells Causes Heart Defects

Sample size: 4 publication Evidence: high

Author Information

Author(s): Wang Jikui, Nagy Andre, Larsson Jonas, Dudas Marek, Sucov Henry M, Kaartinen Vesa

Primary Institution: The Saban Research Institute of Childrens Hospital Los Angeles

Hypothesis

Deletion of Alk5 in neural crest cells will reveal unique phenotypes related to cardiac and pharyngeal development.

Conclusion

ALK5-mediated signaling in neural crest cells is essential for proper development of the pharyngeal and cardiac outflow tract.

Supporting Evidence

  • ALK5 is not required for neural crest cell migration but is crucial for their survival.
  • Mice lacking Alk5 in neural crest cells displayed severe cardiovascular defects.
  • Increased apoptosis of post-migratory neural crest cells was observed in Alk5 mutants.
  • Pharyngeal organs failed to migrate properly in Alk5/Wnt1-Cre mutants.

Takeaway

When a specific gene called Alk5 is missing in certain cells, it causes serious heart problems in mice because those cells can't survive properly.

Methodology

The study involved deleting the TGF-β type I receptor Alk5 specifically in mouse neural crest cells and analyzing the resulting phenotypes.

Limitations

The study primarily focuses on mouse models, which may not fully replicate human conditions.

Digital Object Identifier (DOI)

10.1186/1471-213X-6-51

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