Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
© SCIEPRO/SCIENCE PHOTO LIBRARY/Getty
The discovery of six genes linked to nephrotic syndrome could aid the hunt for new ways to treat this chronic kidney disease.
Nephrotic syndrome occurs when tiny filtering units in the kidneys stop functioning properly, which causes excessive protein to be excreted in urine.
Now, a team that included investigators from Tohoku University’s United Centers for Advanced Research and Translational Medicine has identified recessive mutations in six genes that explained cases of nephrotic syndrome in 17 families from around the world.
Lab studies with cultured kidney cells helped reveal how the proteins encoded by the mutated genes interact to regulate kidney function.
All the patients responded partially to steroid treatment, but the regulatory pathway revealed by the study may offer new drug targets for steroid-resistant disease — a form of nephrotic syndrome for which no effective therapies currently exist.
- Nature Communications 9, 1960 (2018). doi: 10.1038/s41467-018-04193-w