GIBH has discovered a new mechanism of VHL gene in renal cysts

Miguel Esteban and Duanqing Pei’s Research teams from GIBH have discovered a new mechanism of VHL gene in renal cysts. This work was published in the internationally prestigious nephrological journal: Journal of the American Society of Nephrology (JASN) on 23rd, September, 2010.

Renal cysts are fluidic masses which developed in the kidneys. Two-thirds of all renal cysts occurred in the people over the age of 60 and effective treatments have yet to be developed. It is widely believed that the functionality of the primary cilia is impaired by mutant genes (e.g. VHL gene) causing the cells to become imperceptible to external signals and thus enter into multiplying phases, which results in the formation of renal masses.

This work revealed the biomolecular mechanism behind renal cyst  formation due to VHL gene mutations. Specifically, hypoxia induced factor HIF overexpresses and the enzyme activities are changed. The depolymerization of mediated primary cilia leads to the atrophy of primary cilia. The research team has significantly improved the formation rate of the primary cilia by silencing the signal pathways which express by genes, thereby revealing the role of VHL gene in renal cyst formation and theoretically offering clinical therapies to VHL diseases by targeting the pathway where small molecules combine.