Loss of Niemann-Pick C1 or C2 Protein Results in Similar Biochemical Changes Suggesting That These Proteins Function in a Common Lysosomal Pathway

2011

Loss of NPC1 or NPC2 Protein Affects Lysosomal Function

Sample size: 134 publication Evidence: high

Author Information

Author(s): Dixit Sayali S., Jadot Michel, Sohar Istvan, Sleat David E., Stock Ann M., Lobel Peter

Primary Institution: Center for Advanced Biotechnology and Medicine, Piscataway, New Jersey, United States of America

Hypothesis

Do NPC1 and NPC2 have unrelated functions within the lysosome in addition to their roles in cholesterol transport?

Conclusion

The study found that NPC1 and NPC2 deficiencies lead to similar biochemical changes in lysosomes, suggesting they function closely together in cholesterol transport.

Supporting Evidence

NPC1 and NPC2 deficiencies lead to similar decreases in buoyant densities of lysosomes.
Absence of either NPC1 or NPC2 resulted in similar alterations in lysosomal enzyme activities.
The study verified that the phenotype of the Npc2 mutant is attenuated compared to the Npc1 mutant.

Takeaway

This study looked at two proteins that help move cholesterol in cells. When either protein is missing, the cells have similar problems, which means they probably work together.