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• M-M a, G-M i, P-V t, P-l s, b M,
artínontalVoonzálezariscaloMaresicianaadillaóPezallesterosMost relevant
Vazquez-Fonseca l, GandolFo P, brautiGan dl, naVas P, santos-ocaña c. The phosphatase
scientific Ptc7 induces coenzyme Q biosynthesis by activating the hydroxylase Coq7 in yeast. J Biol

articles
Chem. 288(39):28126-37 (2013).

• laPuente-brun e, Moreno-loshuertos r, acín-Pérez r, latorre-Pellicer a, colás c, balsa e,
Perales-cleMente e, quirós PM, calVo e, rodríGuez-hernández Ma, naVas P, cruz r, carracedo
á, l-o c, P-M a, F-s P, F-V e, e Ja. Super-
óPeztínérezartosernándezilVaernándezizarranríquez
complex assembly determines electron flux in the mitochondrial electron transport chain.
Science 340(6140):1567-70 (2013).

• Montero r, Grazina M, lóPez-Gallardo e, Montoya J, briones P, naVarro-sastre a, land JM, har-

GreaVes iP, artuch r; o’callaGhan MM, Jou, c, JiMenez c, buJán n, Pineda M, García-cazorla a,
nasciMento a, Perez-dueñas b, ruiz-Pesini e, Fratter c, salViati l, siMöes M, Mendes c, Joäosan-
M, d l, G P, n P. Coenzyme Q deficiency in mitochondrial DNA depletion
tos ioGoarcíaaVas10
syndromes. Mitochondrion 13(4):337-41 (2013).

• Fernández-ayala dJ, Guerra i, JiMénez-Gancedo s, cascaJo MV, GaVilán 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 modelling study for
human coenzyme Q10 deficiencies. BMJ 3(3). pii: e0025242013.
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• JiMenez-GoMez y, Mattison Ja, Pearson kJ, Martín-MontalVo a, Palacios hh, sossonG aM, Ward
tM, y cM, l k, a Js, l dl, b JP, M MM, n P, s M,
ountseWisllardonGoelManalaGonaVasanGhVií
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M, c r. Resveratrol improves adipose insulin signaling and reduces the inflam-
nier de aboé
matory response in adipose tissue of rhesus monkeys on high-fat, high-sugar diet. Cell
Metab. 18(4):533-45 (2013).

BIOCHEMICAL/MOLECULAR DIAGNOSIS. The research group U729 has main- á
Highlights
tained our translational activity through our service to both public and private

Andalussian hospitals for the diagnostics of mitochondrial pathologies. We receive
biopsies on mondays that were prescribed by mainly neuropediatricians in which

we analyze both electron chain complexes activities and the content of coenzyme

Q10. In positive cases, we receive a skin biopsy to try molecular diagnosis. In
2013 we did the analysis of 250 biopsies.

PROJECTS. During 32013 we participated in the application for three projects that

were funded. The two firsts corresponded to the 2012 call but were initiated in
2013, and the third one was approved in 2013 and started this year.
é
• Coenzyme Q10 deficiency syndrome: understanding the genotype-phenotype as-

sociation and metabolic dysfunction through generation of induced pluripotent

stem cells (ipscs) from patient-specific uncorrected and genetically-corrected cells.
ERANET-RARE 2012 (2013-2015) PI: Pablo Menndez.

• Utilizacin de clulas madre pluripotentes inducidas (iPS) para el estudio y
tratamiento de enfermedades mitocondriales. CIBERER ACCI 2012 (2013-2014) PI:

Rafael Garesse.
13
20
• Terapia del sndrome de deficiencia de CoQ10. Junta de Andalucía-Proyectos de T
OR
Excelencia CTS 943 PI: Plcido Navas
P
RE
RESULTS
L
A
• We have demonstrated that the different levels of mtDNA are related to the NU
changes in the activities of respiratory chain and leads to a secondary deficiency N
A
of CoQ10.
R /
E
• We have developed a ADCK2 KO mouse that mimic the pathology of the fatty acids ER
B
metabolism observed in patients with a heterozygotic mutation in these gene.
CI

• We have obtained induced pluripotent stem cells (iPSCs) from fibroblasts of a
patient with a mutation in COQ4 to study its role in motoneuron differentiation.
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