Format

Send to

Choose Destination
Mitochondrion. 2018 Sep;42:50-53. doi: 10.1016/j.mito.2017.10.011. Epub 2017 Nov 14.

The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice.

Author information

1
Lübeck Institute of Experimental Dermatology, University of Lübeck, Germany.
2
Division of Gastroenterology, Department of Medicine II, University Medicine Rostock, Rostock, Germany.
3
Inserm, U1016, Institut Cochin; Paris Cedex 75014, France; CNRS UMR 8104, Paris Cedex, 75014, France; Université Paris Diderot, Paris Cedex 75014, France.
4
Inserm, U1016, Institut Cochin; Paris Cedex 75014, France; CNRS UMR 8104, Paris Cedex, 75014, France; Université Paris Descartes UMRS1016, Paris Cedex 75014, France.
5
Institute for Nutritional Medicine, University of Lübeck, Lübeck, Germany.
6
Institute of Physical and Chemical Biology, UMR 7099, CNRS, University Paris-Diderot, Sorbonne Paris Cités, Paris, France.
7
Lübeck Institute of Experimental Dermatology, University of Lübeck, Germany; College of Medicine, Sharjah Institute for Medical Research, University of Sharjah, AE-27272, United Arab Emirates. Electronic address: Saleh.Ibrahim@uksh.de.

Abstract

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.

KEYWORDS:

Mitochondria; Mouse model; Polycystic liver disease (PCLD); Uncoupling protein 2 (UCP2)

PMID:
29154852
DOI:
10.1016/j.mito.2017.10.011

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center