β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice

Abstract Coenzyme Q (CoQ) deficiency has been associated with primary defects in the CoQ biosynthetic pathway or to secondary events. In some cases, the exogenous CoQ supplementation has limited efficacy. In the Coq9R239X mouse model with fatal mitochondrial encephalopathy due to CoQ deficiency, we...

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Main Authors: Agustín Hidalgo‐Gutiérrez, Eliana Barriocanal‐Casado, Mohammed Bakkali, M Elena Díaz‐Casado, Laura Sánchez‐Maldonado, Miguel Romero, Ramy K Sayed, Cornelia Prehn, Germaine Escames, Juan Duarte, Darío Acuña‐Castroviejo, Luis C López
Format: Article
Language:English
Published: Springer Nature 2018-11-01
Series:EMBO Molecular Medicine
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Online Access:https://doi.org/10.15252/emmm.201809466
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author Agustín Hidalgo‐Gutiérrez
Eliana Barriocanal‐Casado
Mohammed Bakkali
M Elena Díaz‐Casado
Laura Sánchez‐Maldonado
Miguel Romero
Ramy K Sayed
Cornelia Prehn
Germaine Escames
Juan Duarte
Darío Acuña‐Castroviejo
Luis C López
author_facet Agustín Hidalgo‐Gutiérrez
Eliana Barriocanal‐Casado
Mohammed Bakkali
M Elena Díaz‐Casado
Laura Sánchez‐Maldonado
Miguel Romero
Ramy K Sayed
Cornelia Prehn
Germaine Escames
Juan Duarte
Darío Acuña‐Castroviejo
Luis C López
author_sort Agustín Hidalgo‐Gutiérrez
collection DOAJ
description Abstract Coenzyme Q (CoQ) deficiency has been associated with primary defects in the CoQ biosynthetic pathway or to secondary events. In some cases, the exogenous CoQ supplementation has limited efficacy. In the Coq9R239X mouse model with fatal mitochondrial encephalopathy due to CoQ deficiency, we have tested the therapeutic potential of β‐resorcylic acid (β‐RA), a structural analog of the CoQ precursor 4‐hydroxybenzoic acid and the anti‐inflammatory salicylic acid. β‐RA noticeably rescued the phenotypic, morphological, and histopathological signs of the encephalopathy, leading to a significant increase in the survival. Those effects were due to the decrease of the levels of demethoxyubiquinone‐9 (DMQ9) and the increase of mitochondrial bioenergetics in peripheral tissues. However, neither CoQ biosynthesis nor mitochondrial function changed in the brain after the therapy, suggesting that some endocrine interactions may induce the reduction of the astrogliosis, spongiosis, and the secondary down‐regulation of astrocytes‐related neuroinflammatory genes. Because the therapeutic outcomes of β‐RA administration were superior to those after CoQ10 supplementation, its use in the clinic should be considered in CoQ deficiencies.
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issn 1757-4676
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publishDate 2018-11-01
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spelling doaj-art-9013018b61324fb0803832ef7595dea92025-08-20T02:39:24ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842018-11-0111111810.15252/emmm.201809466β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X miceAgustín Hidalgo‐Gutiérrez0Eliana Barriocanal‐Casado1Mohammed Bakkali2M Elena Díaz‐Casado3Laura Sánchez‐Maldonado4Miguel Romero5Ramy K Sayed6Cornelia Prehn7Germaine Escames8Juan Duarte9Darío Acuña‐Castroviejo10Luis C López11Departamento de Fisiología, Facultad de Medicina, Universidad de GranadaDepartamento de Fisiología, Facultad de Medicina, Universidad de GranadaDepartamento de Genética, Facultad de Ciencias, Universidad de GranadaDepartamento de Fisiología, Facultad de Medicina, Universidad de GranadaDepartamento de Fisiología, Facultad de Medicina, Universidad de GranadaDepartamento de Farmacología, Facultad de Farmacia, Universidad de GranadaInstituto de Biotecnología, Centro de Investigación Biomédica, Universidad de GranadaInstitute of Experimental Genetics, Genome Analysis Center, Helmholtz Zentrum MünchenDepartamento de Fisiología, Facultad de Medicina, Universidad de GranadaDepartamento de Farmacología, Facultad de Farmacia, Universidad de GranadaDepartamento de Fisiología, Facultad de Medicina, Universidad de GranadaDepartamento de Fisiología, Facultad de Medicina, Universidad de GranadaAbstract Coenzyme Q (CoQ) deficiency has been associated with primary defects in the CoQ biosynthetic pathway or to secondary events. In some cases, the exogenous CoQ supplementation has limited efficacy. In the Coq9R239X mouse model with fatal mitochondrial encephalopathy due to CoQ deficiency, we have tested the therapeutic potential of β‐resorcylic acid (β‐RA), a structural analog of the CoQ precursor 4‐hydroxybenzoic acid and the anti‐inflammatory salicylic acid. β‐RA noticeably rescued the phenotypic, morphological, and histopathological signs of the encephalopathy, leading to a significant increase in the survival. Those effects were due to the decrease of the levels of demethoxyubiquinone‐9 (DMQ9) and the increase of mitochondrial bioenergetics in peripheral tissues. However, neither CoQ biosynthesis nor mitochondrial function changed in the brain after the therapy, suggesting that some endocrine interactions may induce the reduction of the astrogliosis, spongiosis, and the secondary down‐regulation of astrocytes‐related neuroinflammatory genes. Because the therapeutic outcomes of β‐RA administration were superior to those after CoQ10 supplementation, its use in the clinic should be considered in CoQ deficiencies.https://doi.org/10.15252/emmm.2018094662,4‐dihydroxybenzoic acidastrogliosismitochondrial encephalopathyQ synthomespongiosis
spellingShingle Agustín Hidalgo‐Gutiérrez
Eliana Barriocanal‐Casado
Mohammed Bakkali
M Elena Díaz‐Casado
Laura Sánchez‐Maldonado
Miguel Romero
Ramy K Sayed
Cornelia Prehn
Germaine Escames
Juan Duarte
Darío Acuña‐Castroviejo
Luis C López
β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
EMBO Molecular Medicine
2,4‐dihydroxybenzoic acid
astrogliosis
mitochondrial encephalopathy
Q synthome
spongiosis
title β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
title_full β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
title_fullStr β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
title_full_unstemmed β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
title_short β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
title_sort β ra reduces dmq coq ratio and rescues the encephalopathic phenotype in coq9r239x mice
topic 2,4‐dihydroxybenzoic acid
astrogliosis
mitochondrial encephalopathy
Q synthome
spongiosis
url https://doi.org/10.15252/emmm.201809466
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