Fig. 2. Disorganized cilia with abnormal ciliary protein expression in renal tubular cells of patient with NPHP1 deletion.
(A) Disorganized cilia in renal tubular cells of patient with NPHP1 deletion. Confocal immunomicroscopy of normal and patient kidney sections stained with Arl13b and Ac-tubulin antibodies to detect primary cilia and with IFT88 to detect basal body. Primary cilia appear shorter and disorganized in epithelial cells of patient kidney sections. (E- F) Quantification of ciliation and ciliary length (n=200). (B) Normal expression of NPHP8 and abnormal expression of (C) NPHP4 in cilia of renal tubular cells from the NPHP1 deletion patient. Confocal immunomicroscopy of patient kidney sections stained for NPHP8 and NPHP4. (G) Quantification of cells with abnormal expression of NPHP4 (n=50). (D) Aberrant expression of phosphoinositide 5-phosphatases in cilia of renal tubular cells from the NPHP1 deletion patient. Confocal immunomicroscopy of patient kidney sections stained for INPP5E. (H) Quantification of cells with abnormal expression (n=50). Statistical analysis in E-H was performed using Student’s test, p<0.05 was considered statistically significant. Scale bars: (A-C) 10 μm; (D) magnified images 40 μm. (Arrow, marks primary cilia)