ABSTRACT
A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.
Subject(s)
Child , Humans , Bone Density , Hematopoietic Stem Cell Transplantation , Mutation , Osteopetrosis/genetics , Sorting Nexins/geneticsABSTRACT
Aim To discuss the influence of endosome/ lysosome transport proteins SNX10 on macrophage, providing new potential targets for the treatment of variety of related immune diseases . Methods The genotype of mice was identified by PCR. The role of SNX10 in phagocytosis of bacterial components and sterilization by macrophages were assessed. The levels of TNF-α、IL-12 / 23 p40 and IL-6 were measured by q-PCR and ELISA assay. Finally, the NF-κB signaling pathway was evaluated by Western blot and immuno-fluorescence staining. Results Ex vivo experiments showed that SNX10 knockout could enhance bactericid-al ability and inhibit the expression and production of TNF-α, IL-12 / 23 p40 and IL-6 of macrophages.These effects might attribute to the inhibition of NF-κB signaling pathway activation. Conclusion SNX10 knockout could enhance bactericidal ability and inhibit the inflammatory response of macrophages, and its mechanism may be achieved through the NF-κB signa-ling pathway.