{"id":20845,"date":"2026-04-13T13:45:45","date_gmt":"2026-04-13T12:45:45","guid":{"rendered":"https:\/\/cabd.es\/dr-daniel-jose-moreno-fernandez-ayala\/"},"modified":"2026-05-26T09:10:18","modified_gmt":"2026-05-26T08:10:18","slug":"dr-daniel-jose-moreno-fernandez-ayala","status":"publish","type":"page","link":"https:\/\/cabd.es\/en\/investigation\/departments\/organismal-dynamics\/dr-daniel-jose-moreno-fernandez-ayala\/","title":{"rendered":"Dr Daniel Jos\u00e9 Moreno Fern\u00e1ndez-Ayala"},"content":{"rendered":"

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Organismal Dynamics<\/p>\n

Gene expression and development in Coenzyme Q deficiency: a model to establish the origin of this mitochondrial disease<\/a><\/h1>\n

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Dr Daniel Jos\u00e9 Moreno Fern\u00e1ndez-Ayala<\/h4>\n

\u00a0Researcher<\/p>\n

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Summary\u00a0<\/h2>\n
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CoQ deficiencies are a group of heterogeneous mitochondrial diseases characterized by a depletion in the CoQ level. CoQ is synthesized inside mitochondria where it participates in oxidative phosphorylation to generate ATP. Many genes are directly or indirectly involved in the mitochondrial synthesis of CoQ. It can be caused by defects in genes that are part of the CoQ10<\/sub>\u00a0synthesis complex or in its regulation inside mitochondria (primary deficiency), or as a secondary effect due to the alteration of other mitochondrial functions not directly involved in CoQ10<\/sub>\u00a0synthesis<\/span>.<\/span><\/p>\n

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Any of these mutations induce depletion of CoQ levels, and cells retrain their metabolism to survive under defective mitochondria thanks to\u00a0epigenetic modifications and changes in gene expression to generate a specific transcriptome for survival.<\/p>\n

Human primary cell cultures obtained from patients with\u00a0CoQ deficiencies\u00a0allowed us to study these alterations in vitro, whereas\u00a0animal models (mouse and fruit flies) permit us to study\u00a0how an organism develops under CoQ depletion and how it ages prematurely.<\/span><\/p>\n

We\u00a0specifically\u00a0studied muscle development in a mouse model of CoQ deficiency and characterized their defective mitochondria. Also, we are establishing different strategies to treat\u00a0CoQ deficiency using these animal models.<\/p>\n

We purify live mitochondria from muscle and study the differentiation process of muscle stem cells.\u00a0<\/p>\n

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https:\/\/www.jove.com\/v\/63336\/isolation-mitochondria-from-mouse-skeletal-muscle-for-respirometric?language=Spanish<\/a><\/span><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Relevant publications\u00a0<\/h2>\n
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  • Hern\u00e1ndez-Camacho JD,\u00a0Fern\u00e1ndez-Ayala DJM,<\/strong>\u00a0Vicente-Garc\u00eda C, Navas-Enamorado I, L\u00f3pez-Lluch G, Oliva C, Artuch R, Garcia-Villoria J, Ribes A, de Cabo R, Carvajal JJ, Navas P. Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle. Front Physiol. 2022 Jul 14;13:898792. doi: 10.3389\/fphys.2022.898792. PMID: 35936917; PMCID: PMC9351392.<\/li>\n
  • Hern\u00e1ndez-Camacho JD, Vicente-Garc\u00eda C, S\u00e1nchez-Cuesta A,\u00a0Fernandez-Ayala DJM,<\/strong>\u00a0Carvajal JJ, Navas P. Isolation of Mitochondria from Mouse Skeletal Muscle for Respirometric Assays. J Vis Exp. 2022 Feb 10;(180). doi: 10.3791\/63336. PMID: 35225269.<\/li>\n
  • V\u00e1zquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Oca\u00f1a C, Hern\u00e1ndez-Camacho JD, Guerra I, Cascajo MV, S\u00e1nchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Guti\u00e9rrez P, Brea-Calvo G, L\u00f3pez-Lluch G,\u00a0Fern\u00e1ndez-Ayala DJM,<\/strong>\u00a0Cort\u00e9s-Rodr\u00edguez AB, Rodr\u00edguez-Aguilera JC, Matt\u00e9 C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P.\u00a0ADCK2<\/i>\u00a0Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency. J Clin Med. 2019 Sep 2;8(9):1374. doi: 10.3390\/jcm8091374. PMID: 31480808; PMCID: PMC6780728.<\/li>\n
  • Rodr\u00edguez-Aguilera JC, Cort\u00e9s AB,\u00a0Fern\u00e1ndez-Ayala DJ,<\/strong>\u00a0Navas P. Biochemical Assessment of Coenzyme Q10<\/sub>\u00a0Deficiency. J Clin Med. 2017 Mar 5;6(3):27. doi: 10.3390\/jcm6030027. PMID: 28273876; PMCID: PMC5372996.<\/li>\n
  • Scial\u00f2 F, Sriram A,\u00a0Fern\u00e1ndez-Ayala D,<\/strong>\u00a0Gubina N, L\u00f5hmus M, Nelson G, Logan A, Cooper HM, Navas P, Enr\u00edquez JA, Murphy MP, Sanz A. Mitochondrial ROS Produced via Reverse Electron Transport Extend Animal Lifespan. Cell Metab. 2016 Apr 12;23(4):725-34. doi: 10.1016\/j.cmet.2016.03.009. PMID: 27076081; PMCID: PMC4835580.<\/li>\n
  • Fern\u00e1ndez-Ayala DJ,<\/strong>\u00a0Guerra I, Jim\u00e9nez-Gancedo S, Cascajo MV, Gavil\u00e1n A, Dimauro S, Hirano M, Briones P, Artuch R, De Cabo R, Salviati L, Navas P. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modeling study for human coenzyme Q10 deficiencies. BMJ Open. 2013 Mar 25;3(3):e002524. doi: 10.1136\/bmjopen-2012-002524. PMID: 23533218; PMCID: PMC3612821.<\/li>\n
  • Fern\u00e1ndez-Ayala DJ,<\/strong>\u00a0Chen S, Kemppainen E, O’Dell KM, Jacobs HT. Gene expression in a Drosophila model of mitochondrial disease. PLoS One. 2010 Jan 6;5(1):e8549. doi: 10.1371\/journal.pone.0008549. PMID: 20066047; PMCID: PMC2798955.<\/li>\n
  • Fernandez-Ayala DJ,<\/strong>\u00a0Sanz A, Vartiainen S, Kemppainen KK, Babusiak M, Mustalahti E, Costa R, Tuomela T, Zeviani M, Chung J, O’Dell KM, Rustin P, Jacobs HT. Expression of the\u00a0Ciona intestinalis<\/em>\u00a0alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. Cell Metab. 2009 May;9(5):449-60. doi: 10.1016\/j.cmet.2009.03.004. PMID: 19416715.<\/li>\n
  • Fern\u00e1ndez-Ayala DJ,<\/strong>\u00a0Brea-Calvo G, L\u00f3pez-Lluch G, Navas P. Coenzyme Q distribution in HL-60 human cells depends on the endomembrane system. Biochim Biophys Acta. 2005 Jul 30;1713(2):129-37. doi: 10.1016\/j.bbamem.2005.05.010. PMID: 15993380.<\/li>\n
  • Fern\u00e1ndez-Ayala DJ,<\/strong>\u00a0L\u00f3pez-Lluch G, Garc\u00eda-Vald\u00e9s M, Arroyo A, Navas P. Specificity of coenzyme Q10 for a balanced function of the respiratory chain and endogenous ubiquinone biosynthesis in human cells. Biochim Biophys Acta. 2005 Jan 7;1706(1-2):174-83. doi: 10.1016\/j.bbabio.2004.10.009. PMID: 15620378.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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    Lab members & collaborators<\/h2>\n
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    <\/h3>\n

    Lab members<\/h3>\n

    Group leader<\/h4>\n

    Daniel Jose Moreno Fernandez-Ayala
    Tlf. +34 954978184 (interno UPO: 68184)
    e-mail: dmorfer@upo.es<\/p>\n

    Lab technician<\/h4>\n

    Ana M\u00aa S\u00e1nchez Cuesta<\/p>\n

    Estudiante de doctorado<\/h4>\n

    Juan Diego Hern\u00e1ndez Camacho (jdhercam@upo.es)<\/p>\n

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    Collaborators<\/h3>\n

    Jaime Carvajal Garcia-Valdecasas (CABD-CSIC\/UPO, Sevilla)
    Alberto Sanz Montero (School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, United Kingdom)<\/p>\n

    <\/h5>\n

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    Organismal DynamicsGene expression and development in Coenzyme Q deficiency: a model to establish the origin of this mitochondrial disease Dr Daniel Jos\u00e9 Moreno Fern\u00e1ndez-Ayala \u00a0ResearcherSummary\u00a0 CoQ deficiencies are a group […]<\/p>\n","protected":false},"author":3011,"featured_media":0,"parent":20102,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-20845","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20845","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/users\/3011"}],"replies":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/comments?post=20845"}],"version-history":[{"count":13,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20845\/revisions"}],"predecessor-version":[{"id":24725,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20845\/revisions\/24725"}],"up":[{"embeddable":true,"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/pages\/20102"}],"wp:attachment":[{"href":"https:\/\/cabd.es\/en\/wp-json\/wp\/v2\/media?parent=20845"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}