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

Authors
Woo, Yu MiShin, YubinHwang, Jung-AhHwang, Young-HwanLee, SunyoungPark, Eun YoungKong, Hyun KyungPark, Hayne ChoLee, Yeon-SuPark, Jong Hoon
Issue Date
Oct-2015
Publisher
NATURE PUBLISHING GROUP
Citation
SCIENTIFIC REPORTS, v.5
Journal Title
SCIENTIFIC REPORTS
Volume
5
URI
https://scholarworks.sookmyung.ac.kr/handle/2020.sw.sookmyung/10205
DOI
10.1038/srep15238
ISSN
2045-2322
Abstract
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.
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