Chediak-Higashi syndrome is not due to a defect in microtubule-based lysosomal mobility.
Chediak-Higashi Syndrome is an autosomal recessive disorder that affects intracellular vesicle formation. The diagnostic feature of Chediak-Higashi Syndrome is the presence of 'giant' lysosomes clustered near the nucleus. Lysosome morphology in macrophages is maintained by microtubules and microtubule-based motors, such as kinesin. Dramatic changes in lysosome morphology can be induced by lowering cytoplasmic pH or by adding phorbol esters. When macrophages from beige mice (a murine homolog of Chediak-Higashi Syndrome) were subjected to these protocols they were able to alter their lysosomal distribution and morphology to the same degree as macrophages from control mice. These results indicate that lysosomes in Chediak cells are capable of interacting with the microtubule-based motor system, suggesting that the defective gene product is not an altered microtubular element involved in lysosomal movement.
Perou
C M
CM
Department of Pathology, University of Utah College of Medicine, Salt Lake City.
Kaplan
J
J
D000818:Animals; D001853:Bone Marrow / Q000473:pathology; D002609:Chediak-Higashi Syndrome / Q000473:pathology*; D004195:Disease Models, Animal; D006801:Humans; D008247:Lysosomes / Q000473:pathology*; D008264:Macrophages / Q000502:physiology / Q000648:ultrastructure*; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000033:anatomy & histology*; D008870:Microtubules / Q000187:drug effects / Q000502:physiology*; D015739:Nocodazole / Q000494:pharmacology
D015739:Nocodazole