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

Misa Hirose; Paul Schilf; Sarah Rohde; Yask Gupta; Tiphaine Sancerni; Marie Clotilde Alves-Guerra; Christian Sina; Robert Jaster; Bruno Miroux; Saleh M. Ibrahim

doi:10.1016/j.mito.2017.10.011

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

Misa Hirose, Paul Schilf, Sarah Rohde, Yask Gupta, Tiphaine Sancerni, Marie Clotilde Alves-Guerra, Christian Sina, Robert Jaster, Bruno Miroux, Saleh M. Ibrahim^*

^*Korrespondierende/r Autor/-in für diese Arbeit

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 12 months 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.

Originalsprache	Englisch
Zeitschrift	Mitochondrion
Jahrgang	42
Seiten (von - bis)	50-53
Seitenumfang	4
ISSN	1567-7249
DOIs	https://doi.org/10.1016/j.mito.2017.10.011
Publikationsstatus	Veröffentlicht - 01.09.2018

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10.1016/j.mito.2017.10.011

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title = "The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice",

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 12 months 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.",

author = "Misa Hirose and Paul Schilf and Sarah Rohde and Yask Gupta and Tiphaine Sancerni and Alves-Guerra, {Marie Clotilde} and Christian Sina and Robert Jaster and Bruno Miroux and Ibrahim, {Saleh M.}",

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doi = "10.1016/j.mito.2017.10.011",

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T1 - The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice

AU - Hirose, Misa

AU - Schilf, Paul

AU - Rohde, Sarah

AU - Gupta, Yask

AU - Sancerni, Tiphaine

AU - Alves-Guerra, Marie Clotilde

AU - Sina, Christian

AU - Jaster, Robert

AU - Miroux, Bruno

AU - Ibrahim, Saleh M.

PY - 2018/9/1

Y1 - 2018/9/1

N2 - 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 12 months 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.

AB - 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 12 months 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.

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U2 - 10.1016/j.mito.2017.10.011

DO - 10.1016/j.mito.2017.10.011

M3 - Journal articles

AN - SCOPUS:85034784780

SN - 1567-7249

VL - 42

SP - 50

EP - 53

JO - Mitochondrion

JF - Mitochondrion

ER -

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

Abstract

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