Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia
2008

Kidney Problems in Mice Lacking a Specific Gene

Sample size: 73 publication Evidence: high

Author Information

Author(s): Chen Jindong, Futami Kunihiko, Petillo David, Peng Jun, Wang Pengfei, Knol Jared, Li Yan, Khoo Sok-Kean, Huang Dan, Qian Chao-Nan, Zhao Ping, Dykyma Karl, Zhang Racheal, Cao Brian, Yang Ximing J., Furge Kyle, Williams Bart O., Teh Bin Tean

Primary Institution: Van Andel Research Institute

Hypothesis

Does the inactivation of the BHD gene in mice lead to kidney tumors and cysts?

Conclusion

Mice with a specific gene inactivated developed severe kidney issues, including cysts and tumors, due to the activation of the mTOR pathway.

Supporting Evidence

  • Mice lacking the BHD gene developed enlarged kidneys with cysts.
  • Affected mice died of kidney failure at three weeks of age.
  • The study linked BHD gene inactivation to the activation of the mTOR pathway.

Takeaway

When scientists turned off a gene in mice that usually helps control kidney growth, the mice got sick with big cysts and tumors in their kidneys.

Methodology

The study used a kidney-specific BHD knockout mouse model to observe the effects of gene inactivation on kidney health.

Limitations

The short lifespan of the mice may have prevented the observation of solid tumors.

Participant Demographics

Mice used in the study were genetically modified to lack the BHD gene.

Digital Object Identifier (DOI)

10.1371/journal.pone.0003581

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