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We read with interest the paper by Urribarri et al 1 which describes that metalloprotease hyperactivity plays an important role in cyst expansion and that metalloprotease inhibition reduces cyst proliferation. As such, these results help to identify potential drug targets.2 We hypothesise that the expansion and maintenance of the cyst is preceded by mutational events that trigger cytogenesis, and we used genetic analysis to provide additional insight into this process. The majority of polycystic diseases are autosomal dominant disorders where every patient cell possesses one germ line mutation (first hit).3 As somatic second-hit mutations play an important role in liver and renal cyst formation,4–6 it was hypothesised that patients with polycystic disease have a DNA repair defect and accumulate somatic mutations.7 This was supported by a comparative genomic hybridisation study where renal cysts harboured multiple chromosomal aberrations, similar to cancers.8 ,9 In addition, patients without a germ line mutation can still develop …
Contributors MJJ: Study concept and design, acquisition of data, analysis and interpretation of data, statistical analysis and drafting and revising of the manuscript. JS: Acquisition of data, analysis and interpretation of data, technical support and revising the draft paper. CB: Acquisition of data, technical support and revising the draft paper. RP: Acquisition of data, analysis and interpretation of data, critical revision of the manuscript for important intellectual content, technical and material support. JPHD: Study concept and design, critical revision of the manuscript for important intellectual content, obtained funding and supervised the study.
Funding Funding for this study was provided by the Institute for Genetic and Metabolic Diseases (Radboudumc).
Competing interests CB is an employee of Bioscientia/Sonic Healthcare.
Patient consent Obtained.
Ethics approval Commissie Mensgebonden Onderzoek (CMO) regio Arnhem-Nijmegen.
Provenance and peer review Not commissioned; internally peer reviewed.