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Most relevant scientific articles
• KalKo, G. s., paco, s., Jou, c., roDríGuez, a. m., meznaric, m., roGac, m., JeKoVec-VrHoVseK, m., sciacco, m., moGGio, m., FaGiolari, G., De paepe, b., De meirleir, l., Ferrer, i., roiG-quilis, m., munell, F., montoya, J., lópez-GallarDo, e., ruiz-pesini, e., artucH, r., montero, r., torner, F., nascimento, a., ortez, c., colomer, J., Jiménez-mallebrera, c. “Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a poten- tial novel biomarker for mitochondrial myopathies” BMC Genomics . 15:91 (22 páginas), 2014 . DOI: 10 .1186/1471-2164-15-91
• pesini, a., iGlesias e., GarriDo n., bayona-baFaluy, m. p., montoya, J., ruiz-pesini, e. “OXPHOS, pyrimidine nucleotides and Alzheimer disease: A pharmacogenomics approach” . Journal of Alzheimer’s Disease 42, 87-96, 2014 .
• martínez-romero, i., Herrero-martín, m. D., llobet, l., emperaDor, s., martín-naVarro, a., narberHaus, b., ascaso, F. J., lópez-GallarDo, e., montoya, J., ruiz-pesini, e. “A new MT-ND1 pathologic mutation for Le- ber hereditary optic neuropathy” Clin Exp Ophthalmol 42, 856-864, 2014 . DOI: 10 .1111/ceo .12355
• lorente, l., matín, m. m., lópez-GallarDo, e., iceta, r., blanquer, J., solé-Violán, J., labarta, l., Díaz, c., Jiménez, a., montoya, J., ruiz-pesini, e. “Higher platelet cytochrome oxidase specific activity in surviving than in non-surviving septic patients” . Crit . Care 18(3), R136 (7 páginas), 2014
• lópez-GallarDo, e., emperaDor, s., solano, s., llobet, l., martín-naVarro, a., lópez-pérez, m. J., briones, p., pineDa, m., artucH, r., barraquer, e., Jericó, i., ruiz-pesini, e., montoya, J. “Expanding the clinical phe- notypes of MT-ATP6 mutations” Hum Mol Genet . 23, 6191-6200, 2014 . doi:10 .1093/hmg/ddu339 Portada del número 23 de este volumen, dedicada a este artículo (figura 4) .
Highlights
New mutations in the mitochondrial DNA (mtDNA) associated with new and already known phenotypes have been described . In particular, mutations in the MT-ATP6 gene), until now related only with syndromes of striatal necrosis, have been associated with metilglutaconica aciduria, LHON and NARP . These results show the importance of sequencing the gene or the complete mtDNA, at least, in patients with suspiction of suffering disease related to the mtDNA and that do not present histochemical and biochemical damage in the oxidative phosphorylation system and, therefore, not used to analyze . A figure of this article was the cover of the issue of Hum . Mol . Genet in which it was published . In addition, new nuclear genes related to mitochondrial disease have been described .
The results obtained in this period have allowed to reveal the molecular basis of several mitochondrial diseases . This was reaized in collaboration with groups intraCIBERER and other hospitals that do not belong to CIBERER, reflecting care clinical results, treatment, and basic research, providing a strong translational character . In addition, neural cybrids have been generated to study the effect of variations of the OXPHOS system in these diseases . Beside this, we have carried out experiments in order to study the interaction between mutations of mtDNA with different drugs and xenobiotics .
Institution: Universidad de Zaragoza Contact: Universidad de Zaragoza . Dep .de Bioquímica, Biología Molecular y Celular C/ Miguel Servet, 177 · Phone: (+34) 976 761 614 · E .mail: jmontoya@unizar .es
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