PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis

JCI Insight. 2016 Oct 20;1(17):e86330. doi: 10.1172/jci.insight.86330.

Abstract

Mutations of the Plekhm1 gene in humans and rats cause osteopetrosis, an inherited bone disease characterized by diminished bone resorption by osteoclasts. PLEKHM1 binds to RAB7 and is critical for lysosome trafficking. However, the molecular mechanisms by which PLEKHM1 regulates lysosomal pathways remain unknown. Here, we generated germline and conditional Plekhm1-deficient mice. These mice displayed no overt abnormalities in major organs, except for an increase in trabecular bone mass. Furthermore, loss of PLEKHM1 abrogated the peripheral distribution of lysosomes and bone resorption in osteoclasts. Mechanistically, we indicated that DEF8 interacts with PLEKHM1 and promotes its binding to RAB7, whereas the binding of FAM98A and NDEL1 with PLEKHM1 connects lysosomes to microtubules. Importantly, suppression of these proteins results in lysosome positioning and bone resorption defects similar to those of Plekhm1-null osteoclasts. Thus, PLHKEM1, DEF8, FAM98A, and NDEL1 constitute a molecular complex that regulates lysosome positioning and secretion through RAB7.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Animals
  • Autophagy-Related Proteins
  • Bone Resorption*
  • Cell Differentiation
  • Cells, Cultured
  • Endosomes
  • Gene Deletion
  • Homeostasis
  • Lysosomes / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Osteoclasts / physiology*
  • Vesicular Transport Proteins / genetics
  • Vesicular Transport Proteins / physiology*
  • rab GTP-Binding Proteins / physiology*
  • rab7 GTP-Binding Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • Autophagy-Related Proteins
  • Plekhm1 protein, mouse
  • Vesicular Transport Proteins
  • rab7 GTP-Binding Proteins
  • rab7 GTP-binding proteins, human
  • rab7 GTP-binding proteins, mouse
  • rab7 GTP-binding proteins, rat
  • rab GTP-Binding Proteins