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Although autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease, and is characterized by the formation of multiple fluid-filled cysts, which results in renal failure, early diagnosis and treatment of ADPKD have yet to be defined. Herein, we observed that the promoter region of the gene encoding mucin-like protocadherin ( MUPCDH ) was hypermethylated in the renal tissue of patients with ADPKD compared to non-ADPKD controls. Inversely,  MUPCDH  was significantly repressed in ADPKD, especially in cyst-lining cells. Our results indicate that aberrant methylation of  MUPCDH  promoter CpG islands may be negatively correlated with reduced expression level of  MUPCDH  and that this contributes to abnormal cell proliferation in ADPKD. It suggests that methylation status of  MUPCDH  promoter can be used as a novel epigenetic biomarker and a therapeutic target in ADPKD.

Epigenetic silencing of the MUPCDH gene as a possible prognostic biomarker for cyst growth in ADPKD