CD63-Alix-Rab27a exosome axis is identically influenced in Chediak-Higashi syndrome

Abstract

Chediak-Higashi syndrome is characterized by congenital abnormality in exocytosis activity, and accumulation of intracellular lysosome-like structures different types of cells within the body. Accordingly, the lack of appropriate exocytosis and deficiency in lysosomal trafficking accounts for immune-related hypoactivity. Exosomes are other types of cell-derived vesicles that play key role in cell-cell cross talk. However, the possible effect of LYST gene mutation in exosome trafficking and biogenesis remains to be clarified. Herein, we investigated the expression of CD63-Alix-Rab27a exosome axis in Chediak-Higashi syndrome. Real-time PCR analysis showed a marked reduction in the expression of CD63, Alix, and Rab27a genes in mononuclear and polymorphonuclear cells. In addition to accumulated number of intracellular lysosome, it seems that the biogenesis and trafficking of exosomes were also abolished. é 2016, Springer-Verlag London.