New study sheds light on the molecular mechanisms underlying SLC29A3 disorders

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.