4. Conclusion

Our purpose was to contribute to the biological characterization of this Dhcr7T93M/T93M hypomorphic mouse model and identify differences that could help to go deeper in the understanding of SLOS physiopathology.

Proteomic analysis of DRMs of skeletal muscular samples clearly show differences between SLOS and wild-type mice, concerning proteins linked to membranes. The employed methodology allowed us to identify further alterations related with calcium homeostasis and membrane trafficking associated with SLOS and detected, for the first time, changes in mitochondrial energy metabolism in this mouse model.

To the best of our knowledge, this is the first research study focusing on the skeletal muscle of SLOS. The differential protein expression profile identified will open the way to comparative studies with more severally affected disease mice models as well as to similar approaches in human cells which may be helpful to uncover cellular mechanisms related to SLOS.
