A better understanding of organic hydroperoxides
17 March 2023
Published online 6 June 2018
Better understanding of the genetic basis of Nephrotic Syndrome can aid the hunt for therapeutic targets for this chronic kidney disease.
Investigations into the different genetic pathways in steroid sensitive nephrotic syndrome (SSNS) has led researches to discovering new pathogenic pathways to steroid resistant nephrotic syndrome (SRNS). Such discoveries are helping researchers unfold therapeutic targets for the previously untreatable disease.
Nephrotic syndrome is a kidney disease in which disruption of the renal filter causes an increase of protein in the urine, which in turn leads to a drop of protein in the blood.
In a new international study1, researchers from Saudi Arabia, Egypt, India, Japan, the United States, Serbia, Switzerland, Austria, Kazakhstan, Germany and Canada, tested six new monogenic (single-gene) causes of nephrotic syndrome in 17 families who had a unique clinical phenotype of partially treatment sensitive NS.
“We here generate evidence of steroid action on podocyte function," says Shazia Ashraf, co-author of the study. Through the partially treatment sensitive NS patients, the researchers were able to identify a pathogenic pathway via mutations in six genes that were identified within the patients.
“The NS patients who are all partially treatment sensitive shared a phenotype at the intersection of steroid sensitive and steroid resistant nephrotic syndrome,” says Ashraf.
The pathogenic pathway discovered shows that the six gene products all lead to regulating RhoA, a protein involved in regulating cell division. “This indicates that we discovered a novel functional RhoA regulatory module that is amenable to therapy,” explains Ashraf.
According to the researcher, defining this novel pathogenic pathway opens the first inroads into defining therapeutic targets for SRNS, for which currently no efficient treatment exists.