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Hidalgo-Gutierrez 2015 Abstract MiP2015 - Revision history
2024-03-29T11:49:29Z
Revision history for this page on the wiki
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https://wiki.oroboros.at/index.php?title=Hidalgo-Gutierrez_2015_Abstract_MiP2015&diff=125327&oldid=prev
Beno Marija at 13:34, 9 November 2016
2016-11-09T13:34:02Z
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Beno Marija
https://wiki.oroboros.at/index.php?title=Hidalgo-Gutierrez_2015_Abstract_MiP2015&diff=97681&oldid=prev
Kandolf Georg: moved Hidalgo 2015 Abstract MiP2015 to Hidalgo-Gutierrez 2015 Abstract MiP2015
2015-09-04T12:19:08Z
<p>moved <a href="/index.php/Hidalgo_2015_Abstract_MiP2015" class="mw-redirect" title="Hidalgo 2015 Abstract MiP2015">Hidalgo 2015 Abstract MiP2015</a> to <a href="/index.php/Hidalgo-Gutierrez_2015_Abstract_MiP2015" title="Hidalgo-Gutierrez 2015 Abstract MiP2015">Hidalgo-Gutierrez 2015 Abstract MiP2015</a></p>
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<td colspan="1" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 12:19, 4 September 2015</td>
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Kandolf Georg
https://wiki.oroboros.at/index.php?title=Hidalgo-Gutierrez_2015_Abstract_MiP2015&diff=96901&oldid=prev
Gnaiger Erich at 12:03, 25 August 2015
2015-08-25T12:03:20Z
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Gnaiger Erich
https://wiki.oroboros.at/index.php?title=Hidalgo-Gutierrez_2015_Abstract_MiP2015&diff=96851&oldid=prev
Kandolf Georg at 08:47, 25 August 2015
2015-08-25T08:47:11Z
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<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|title=Strategies to enhance the endogenous biosynthesis of Coenzyme Q.</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|authors=Hidalgo-Gutierrez A, Luna-Sanchez M, Barriocanal-Casado E, Quinzii CM, Lopez LC</ins></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|year=2015</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|year=2015</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|event=MiP2015</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|event=MiP2015</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> </div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|abstract=Primary CoQ<sub>10</sub> deficiency is a rare mitochondrial disease caused by mutations in CoQ biosynthetic genes. This syndrome is associated to five major clinical presentations: 1) encephalomyopathy, 2) severe infantile multisystemic disease, 3) cerebellar ataxia, 4) isolated myopathy, and 5) steroid-resistant nephrotic syndrome [1]. The only therapeutic option available for CoQ<sub>10</sub> deficiency syndrome is the exogenous CoQ<sub>10</sub> supplementation. However, the results of this therapy are poor in patients with neurologic symptoms due to low absorption and bioavailability of exogenous CoQ<sub>10</sub> [1]. In those cases, the stimulation of endogenous CoQ<sub>10</sub> biosynthesis could be an alternative and effective therapeutic option [2]. To do that, it is theoretically possible to bypass the defect in a biochemical pathway providing a metabolic intermediate that is downstream to the defective site. Thus, if the defect is in the ''Coq9'' gene, we could assess the ability of 2,4-dihydroxibenzoic acid (2,4-diHB) to rescue CoQ deficiency. Accordingly, we have treated ''COQ9<sup>R244X</sup>'' human fibroblasts with 2.5 mM 2,4-diHB, as well as ''COQ9<sup>R239X</sup>'' mice with 100-200mg/kg bw*day of oral 2,4-diHB [3,4]. At those doses, CoQ<sub>10</sub> levels were significantly increased in COQ9<sup>R244X</sup> fibroblasts. Likewise, CoQ<sub>9</sub> levels were slightly increased in kidneys and skeletal muscle homogenates. In isolated mitochondria, CoQ<sub>9</sub> levels were also increased in kidney and skeletal muscle resulting in an increase of complex I&III activities. However, the levels of CoQ<sub>9</sub> and the CI&III activity were similar in brain of untreated and treated ''COQ9<sup>R239X</sup>'' mice and, as a consequence, the histopathological characteristics of ''COQ9<sup>R239X</sup>'' mice were unaffected after the treatment. These results point out that it is possible to bypass a defect in CoQ biosynthesis ''in vitro'' and ''in vivo''. However, the results in brain suggest that this tissue has a specific regulation of CoQ biosynthesis or that a higher dose of 2,4-diHB is required to increase CoQ biosynthesis in brain.</ins></div></td></tr>
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<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>|additional=MiP2015}}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|area=mtDNA;mt-genetics, mt-Medicine, Pharmacology;toxicology</ins></div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> </div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|organism=Mouse</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|tissues=Skeletal muscle, Nervous system, Kidney</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|model cell lines=Fibroblast</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">|preparations=Homogenate, Isolated mitochondria</ins></div></td></tr>
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<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>|additional=MiP2015</div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== Affiliations ==</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== Affiliations ==</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div> </div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">1-Dept Fisiología, Facultad Medicina, Univ Granada, Spain; 2-Centro Investigación Bioméd, Inst Biotecnología, Parque Tecnológico Ciencias de la Salud, Granada, Spain; 3-Dept Neurology, Columbia Univ Med Center, New York, NY, USA. - panfli@correo.ugr.es</ins></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== References and acknowledgements ==</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== References and acknowledgements ==</div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">#Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D’Agostino E, Salomon M, DiMauro S, Quinzii CM, Hirano M (2012) Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 69:978-83.</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">#Luna-Sanchez M, Díaz-Casado E, Barca E, Tejada MA, Montilla-Garcia A, Cobos EJ, Escames G, Acuña-Castroviejo D, Quinzii CM, López LC (2015) The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences inthe Coq9 gene. EMBO Molecular Medicine 7:670-87.</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">#García-Corzo L, Luna-Sánchez M, Doerrier C, Ortiz F, Escames G, Acuña-Castroviejo D, López LC (2014) Ubiquinol-10 amelioratesmitochondrial encephalopathy associated with CoQ deficiency. Biochimica et Biophysica Acta 1842:893–901.</ins></div></td></tr>
<tr><td colspan="2"></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins style="font-weight: bold; text-decoration: none;">#Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves LP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. AM J Hum Genet 84:558–66.</ins></div></td></tr>
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Kandolf Georg
https://wiki.oroboros.at/index.php?title=Hidalgo-Gutierrez_2015_Abstract_MiP2015&diff=96848&oldid=prev
Kandolf Georg: Created page with "{{Abstract |year=2015 |event=MiP2015 }} {{Labeling |additional=MiP2015}} == Affiliations == == References and acknowledgements =="
2015-08-25T08:09:17Z
<p>Created page with "{{Abstract |year=2015 |event=MiP2015 }} {{Labeling |additional=MiP2015}} == Affiliations == == References and acknowledgements =="</p>
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== Affiliations ==<br />
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== References and acknowledgements ==</div>
Kandolf Georg