BRIEF COMMUNICATION CD63-Alix-Rab27a exosome axis is identically influenced in Chediak-Higashi syndrome Mehdi Hassanpour 1 & Omid Cheraghi 2 & Maryam Akbarzadeh 3 & Saeedeh Zorofchi 4 & Mohammad Nouri 3 & Reza Rahbarghazi 3,5 Received: 31 May 2016 /Accepted: 12 September 2016 # Springer-Verlag London 2016 Abstract Chediak-Higashi syndrome is characterized by congenital abnormality in exocytosis activity, and accumula- tion 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 expres- sion 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. Keywords Chediak-Higashi . Exosome biogenesis genes Introduction Chediak-Higashi syndrome (CHS) causes a crucial immune malfunction, incomplete albinism, and neurological agitation and is determined by a prominent appearance of extremely large intra-cytoplasmic lysosomes misallocated inside of dif- ferent types of cells, including platelets, melanocytes, and blood mono- (MNCs) and poly-morphonuclear cells (PMNCs) (Sepulveda et al., 2015; Stinchcombe et al., 2000). The convenient diagnosis of CHS is currently deter- mined by examining blood smear and identification of ab- normality in the functions of neutrophil, lymphocyte, and eosinophil granules (Baetz et al., 1995; Stinchcombe et al., 2000). It was well established that accumulation of lytic and azurophil granules was seen at earlier endosomal vesicles biogenesis and at the proximity to cell surface (Ménasché et al., 2005). Molecular genetic analysis of the lysosomal trafficking regulator (LYST) locus is considered as a defini- tive diagnostic method, although several linked LYST genes mutation has been also deciphered until now (Dussault et al., 1996). Mechanistically, a disruption in 430-kDa protein product, named LYST factor, could deregulate close relation of microtubules to vesicular traffic and lysosomal exocyto- sis, leading to abnormalities in both innate and adaptive immunities (Dussault et al., 1996). Based on literature, ex- pression and kinetics of different critical effectors participat- ing in granule exocytosis and recycling were extremely af- fected such as Slp3, Munc13-4, different Rab family mem- bers (Rab27a, Rab11, Rab7, etc.) (Sepulveda et al., 2015). In Mohammad Nouri and Reza Rahbarghazi contributed equally to this work. * Mohammad Nouri Nourimd@yahoo.com * Reza Rahbarghazi Rezarahbardvm@gmail.com 1 Department of Biochemistry and Clinical Laboratories, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran 2 Department of Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran 3 Stem Cell Research Center, Tabriz University of Medical Sciences, Imam Reza St., Golgasht St., Tabriz 5166614756, Iran 4 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’ s Medical Center, Tehran University of Medical Sciences, Tehran, Iran 5 Department of Applied Cell Sciences, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Imam Reza St., Daneshgah St., Tabriz 5166614756, Iran Comp Clin Pathol DOI 10.1007/s00580-016-2338-6