| First Author | Hirose M | Year | 2018 |
| Journal | Mitochondrion | Volume | 42 |
| Pages | 50-53 | PubMed ID | 29154852 |
| Mgi Jnum | J:272325 | Mgi Id | MGI:6282345 |
| Doi | 10.1016/j.mito.2017.10.011 | Citation | Hirose M, et al. (2018) The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice. Mitochondrion 42:50-53 |
| abstractText | Polycystic liver diseases (PCLDs) are autosomal dominant disorders. To date, 3 genes are known to be associated with the disease, SEC63 and PRKCSH and LRP5. Here, we report that mice deficient in the mitochondrial uncoupling protein 2 gene (Ucp2(-/-)) spontaneously developed PCLDs when they were over 12months old. Macroscopical observation, blood chemistry as well as histopathological analysis demonstrated the PCLDs found in Ucp2(-/-) mice were very similar to the findings in human PCLDs. This is the first report describing the gene encoding mitochondrial protein is causative for PCLDs. UCP2 may be a biomarker of the PCLDs in humans. |
