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Somatic second-hit mutations leads to polycystic liver diseases

World Journal of Gastroenterology 2013年第1期19卷 141-143页

作者： Jesús M Banales Patricia Munoz-Garrido Luis Bujanda Division of hepatology and Gastroenterology Donostia Universitary HospitalBiodonostia Research InstituteE-20014 San SebastiánSpain Department of Liver and Gastrointestinal Diseases National Institute for the Study of Liver and Gastrointestinal Diseases(CIBERehdfunded by the Spanish Carlos III Institute)08036 BarcelonaSpain Ikerbasque Basque Foundation for Science48011 BilbaoSpain Spanish Association Against Cancer(AECC) 28040 MadridSpain

Polycystic liver diseases(PCLDs) are a heterogeneous group of genetic disorders characterized by the development of multiple fluid-filled cysts in the liver,which derive from cholangiocytes,the epithelial cells lining the bile *** these cysts grow,symptoms such as abdominal distension,nausea,and abdominal pain may *** may exist isolated(i.e.,autosomal dominant polycystic liver disease,ADPLD) or in combination with renal cystogenesis(i.e.,autosomal dominant polycystic kidney disease and autosomal recessive polycystic liver disease).The exact prevalence of PCLDs is unknown,but is estimated to occur in approximately 1:1000 *** the pathogenesis of each form of PCLD appears to be different,increasing evidences indicate that hepatic cystogenesis is a phenomenon that may involve somatic loss of heterozygosity(LOh) in those pathological conditions inherited in a dominant form.A recent report,using highly sophisticated methodology,demonstrated that ADPLD patients with a germline mutation in the protein kinase C substrate 80k-h(PRkCSh) gene mostly develop hepatic cystogenesis through a second somatic *** hepatocystin,the PRkCSh-encoding protein,was absent in the hepatic cysts with LOh,it was still expressed in the heterozygous *** the other hand,no additional trans-heterozygous mutations on the SEC63 homolog(*** /SEC63) gene(also involved in the development of PCLDs) were *** data indicate that PCLD is recessive at the cellular level,and point out the important role of hepatocystin loss in *** this commentary,we discuss the knowledge regarding the role of somatic second-hit mutations in the development of PCLDs,and the most relevant findings have been highlighted.

关键词： Polycystic liver diseases Cholangiocyte Cystogenesis Loss of heterozygosity Protein kinase C substrate 80k-h SEC63

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