Functional analysis of disease-associated polymorphism LRP5.Q89R
2011

Study of LRP5 Polymorphism and Wnt Signaling

Sample size: 5 publication Evidence: moderate

Author Information

Author(s): Mao Weiming, Wordinger Robert J., Clark Abbot F.

Primary Institution: University of North Texas Health Science Center

Hypothesis

Does the LRP5.Q89R polymorphism alter Wnt signaling activity?

Conclusion

The LRP5.Q89R polymorphism does not appear to alter the canonical Wnt signaling pathway.

Supporting Evidence

  • The LRP5.Q89R polymorphism did not change protein expression in HEK293T cells.
  • LRP5.Q89R did not affect binding to the molecular chaperone MESD.
  • The study found no significant differences in Wnt signaling activity between LRP5.WT and LRP5.Q89R.

Takeaway

Scientists looked at a change in a gene related to eye diseases to see if it affects a signaling pathway in cells, but they found it doesn't change anything.

Methodology

The study involved transfecting HEK293T and GTM3 cells with LRP5 expression vectors and analyzing protein expression, interaction with MESD, and Wnt signaling activity using various assays.

Limitations

The study does not rule out the possibility that LRP5.Q89R may have altered functionality in other cell types.

Statistical Information

P-Value

p>0.05

Statistical Significance

p>0.05

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