The team headed by Claude Férec, director of INSERM 1078 “Genetics, functional genomics and biotechnologies” (INSERM/Université de Bretagne/EFS) in Brest, published results in the Journal of the American Society of Nephrology from a cohort of 700 patients suffering from Autosomal Dominant Polycystic Kidney Disease (ADPKD). This condition, the most frequent monogenetic hereditary kidney disease, manifests through the slow and progressive appearance of cysts, mainly on the kidneys.
Researchers showed from the Genkyst cohort that the type of mutation that affects the genes in question in the manifestation of the illness is strongly associated with kidney survival. The median age for terminal renal failure in the illness is 12.3 years earlier when it involves a deleterious mutation in the PKD1 gene, i.e. when all or part of the protein is missing. This type of mutation disrupts the gene’s ability to read which it needs for the long process terminating in the synthesis of proteins. The average age of patients who have reached the terminal renal stage is thus 55.6 years compared to 67.9 years for those not presenting with this type of mutation and 79 years for those with the mutation in the PKD2 gene.
A complete molecular analysis of the PKD1 and PKD2 genes in question enabled Claude Férec’s team, in the context of a project implemented in collaboration with the team headed by Yannick Le Meur, to identify a mutation in 93% of the patients in the cohort.
“Genkyst makes it possible to better establish a relationship between patients’ genotype and phenotype and shows for the first time that the genetic mutation in this illness has a major impact on the way renal function alters over time,” concludes Claude Férec, principal author of the study.