NIH R01 · 2025
Cyst induction and growth in ADPKD
Abstract: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the world’s most common life-threatening genetic diseases. Mutations in the genes PKD1 and PKD2 account for 85% and 15% of all ADPKD cases, respectively. ADPKD patients are heterozygous for either PKD1 or PKD2 deleterious mutations; homozygous mutations are considered incompatible with life. Interestingly, loss-of-heterozygosity studies and genome sequencing of patients’ cysts, have documented the clonal nature of the epithelial cysts in ADPKD. Altogether, these data support the two-hit model in which one mutation in either PKD1 or PKD2 is inherited, but a second (somatic) mutation is required for the clonal expansion…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.