Fig. 2

Locations of uromodulin proteins were evaluated by immunofluorescence staining using various organelle markers. UMOD proteins were simultaneously stained with anti-PDI antibody (ER marker, a, d), anti-golgin97 antibody (Golgi marker, g), anti- LAMP1 marker (lysosome marker j), and anti- chromogranin c antibody (secretory granule marker, m). c, f, i, l, o are merged images. a: Normal control kidney, fine UMOD proteins are located diffusely throughout the cytoplasm, and most intense signals are detected around the lumen of the tubules. b-e: Kidney of an ADTKD-UMOD patient (case #1) with A247P UMOD mutation. UMOD proteins accumulated irregularly inside the cytoplasm and concomitant increases of ER protein (PDI) were observed f. In these sections, golgin97, LAMP1 and chromogranin c neither co-localize with UMOD nor over-activate