The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice.
Mitochondrion
; 42: 50-53, 2018 09.
Article
in En
| MEDLINE
| ID: mdl-29154852
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cysts
/
Uncoupling Protein 2
/
Liver Diseases
Type of study:
Prognostic_studies
Limits:
Animals
Language:
En
Journal:
Mitochondrion
Year:
2018
Document type:
Article
Affiliation country:
Alemania
Publication country:
HOLANDA
/
HOLLAND
/
NETHERLANDS
/
NL
/
PAISES BAJOS
/
THE NETHERLANDS