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- W1574295215 abstract "Polycystic liver disease (PCLD) is characterized by a severe enlarged liver containing numerous cysts. This inherited disease is caused by mutations in the genes PRKCSH or SEC63, which encode the proteins hepatocystin and Sec63p. However it is unclear how mutation of these proteins can lead to cyst development in the liver. Therefore the main goal of this PhD thesis was to gain insight in PCLD pathogenesis. In serum and cyst fluid of patients, we found extremely elevated levels of tumor marker CA19-9, which decreased after treatment of the cysts. CA19-9 could therefore be used as a biomarker for disease progression and intervention efficiency. Study of PCLD patient DNA showed that the frequency and severity of mutations is higher in patients with more than 20 liver cysts. However, patients with less than 10 cysts can also have a mutation in either gene. An extensive analysis of all 47 identified mutations revealed that mutations are localized in important protein domains or influence the secondary or tertiary structure of the encoded protein. We wondered what effect the mutations had on the expression of the proteins in the liver of PCLD patients. As PCLD is a dominant inherited disorder, patients still have a healthy gene next to the mutated gene. Unexpectedly, we found that patients with a PRKCSH mutation did not have any hepatocystin in their cyst tissue. In addition, we could not identify hepatocystin in the cyst fluid of these patients. Closer examination of the DNA from cyst epithelia revealed a second genetic deviation in hepatocystin. In 60% of the studied cysts, we found that a small region of the chromosome on which hepatocystin is coded had disappeared. In 30% of the studied cysts, we found a second mutation in the gene. These results support the hypothesis that two mutations in hepatocystin are needed to cause cyst development" @default.
- W1574295215 created "2016-06-24" @default.
- W1574295215 creator A5063879213 @default.
- W1574295215 date "2008-01-01" @default.
- W1574295215 modified "2023-09-24" @default.
- W1574295215 title "Insights in the molecular pathogenesis of polycystic liver disease : A view from different perspectives." @default.
- W1574295215 hasPublicationYear "2008" @default.
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