4 Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier 71 EXT1/EXT2 mutations do not result in changed microvascular endothelial glycocalyx properties Since mutations in one of the HS elongation enzymes EXT1 and EXT2 could result in compositional changes of the endothelial glycocalyx we investigated possible perturbations in glycocalyx properties. Sublingual measurements of the microcirculation of control and MO patients did not reveal a difference in perfused vascular density (352.69±102.16 vs. 322.25±68.17 µm/mm2, respectively; p>0.99, Figure 1A) nor in changes in the perfused boundary regions (2.05±0.29 vs. 2.15±0.21 µm, respectively; p>0.99, Figure 1B). Subanalysis of PBR in vessels 5 to 9 µm, 10 to 19 µm, and 20 to 25 µm also showed no difference between MO patients and controls (p>0.99 in all instances Figure 1C through E). No correlation was found between increasing age and any of the used outcome parameters, which were density, PBR 5-25, PBR 5-9, PBR 10-19, and PBR 20-25. This was the case in the overall group (r = 0.20, 0.21, -0.13, 0.20, and 0.24 with p = 0.19, 0.18, 0.42, 0,21, and 0,13 respectively) as well as when analysing the MO patient (r = 0.28, -0.12, -0.08, -0.25, and 0.06 with p = 0.27, 0.66, 0.77, 0.34, and 0.82 respectively) and control group (r = 0.18, 0.35, -0.17, 0.38, and 0.33 with p = 0.37, 0.08, 0.43, 0.06, and 0.11 respectively) separately. Figure 1. MO patients have normal vascular density and perfused boundary region (A through E) Summary of vascular density (A) and perfused boundary region (B through E). No difference is seen in both vascular density and PBR between controls and MO patients. Subanalysis of PBR in vessels of 5 to 9 µm (C), 10 to 19 µm (D), and 20 to 25 µm (E) also shows no difference between controls and MO patients. *: p > 0.99
RkJQdWJsaXNoZXIy MTk4NDMw