In humans, the SLC29A3 gene regulates the function of lysosomes to control waste recycling in cells such as macrophages (that engulf and destroy foreign bodies). This gene encodes for the lysosomal protein that transport nucleosides—degradation products of RNA and DNA—from lysosomes to the cytoplasm. Loss-of-function mutations in the SLC29A3 gene lead to aberrant nucleoside storage, resulting in a spectrum of conditions called SLC29A3 disorders.
These disorders can manifest in the form of pigmented skin patches, enlargement of the liver/spleen, hearing loss, or type 1 diabetes. A key manifestation of this group of disorders is histiocytosis, which is characterized by the accumulation of mononuclear phagocytes in multiple organs. However, the molecular link between lysosomal nucleoside storage and histiocytosis has remained elusive so far, making the treatment of this condition challenging.
A team of Japanese researchers has now been able to solve this mystery and establish the mechanism underlying SLC29A3 disorders. Their study was published in the. The findings clearly describe how the aberrant responses of toll-like receptor 7 and TLR8—immune proteins expressed on"We have now uncovered how TLR signaling, a key innate immune response pathway, contributes to histiocytosis in SLC29A3 disorders," remarks Prof.
Pathogens engulfed by macrophages are broken down within the lysosomes. The degradation of pathogenic RNA leads to the generation of nucleosides, which can be sensed by TLR7 and TLR8. Given that SLC29A3 mutations lead to abnormal nucleoside storage within lysosomes, the authors hypothesized that the constitutive activation of TLR7 and TLR8 by nucleosides would be involved in SLC29A3 disorders. They tested this hypothesis in mice lacking this gene.
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