Page 85 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
hernándeZ-laín a, guerrero am, domíngueZ-gonZáleZ c, FernándeZ-VáZqueZ i, maYa dg, delmiro a, et al. A novel RRM2B gene variant associated with Telbivudine-in- duced mitochondrial myopathy. J Neurol Sci. 2015;358(1- 2):481-3.
Baixauli F, acín-PéreZ r, VillarroYa-Beltrí c, maZZeo c, nuñeZ-andrade n, gaBandé-rodrígueZ e, et al. Mitochondrial Respiration Controls Lysosomal Func- tion during Inflammatory T Cell Responses. Cell Metab. 2015;22(3):485-98.
Brull a, de luna n, Blanco-grau a, lucia a, martin ma, arenas J, et al. Phenotype consequences of myophos-
Highlights
A clinical-translational level we have become a center and reference unit (CSUR) for mitochondri- al and inherited metabolic diseases (Coordinator Dr. Garcia-Silva). The implementation of massive parallel sequencing-based methodologies (MPS- NGS), from a previous research project, has led to identification of new mutations in genes associated with depletion_deletion syndromes of mitochondrial DNA (MDDS). In this regard and in close collabora- tion with the U701_CIBERER (Dr. Martí), we were able to establish new genotype-phenotype correla- tions expanding the phenotypic spectrum of those disorders caused by mutations in the gene thymi- dine kinase 2 (TK2). These results have contributed and allowed the granting of a multicenter ISCIII-FIS project coordinated by us regarding personalized medicine. In addition, we have identified in this group of genes, a possible gene-mutation (RRM2B) that could be a modifier of certain antiviral effects. Dr. Martínez-Azorín identified by NGS-exome novel mutations associated with new phenotypes OX- PHOS (genes SERAC1 and CHKB). We have collab-
phorylase dysfunction: insights from the McArdle mouse model. J Physiol. 2015;593(12):2693-706.
cámara Y, carreño-gago l, martín ma, melià mJ, BláZqueZ a, delmiro a, et al. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. Neu- rology. 2015;84(22):2286-8
marín-Buera l, garcía-Bartolomé a, morán m, lóPeZ-Bernardo e, cadenas s, hidalgo B, et al. Differ- ential proteomic profiling unveils new molecular mecha- nisms associated with mitochondrial complex III deficien- cy. J Proteomics. 2015;113:38-56.
orated with U713_CIBERER (Dr. Cuezva) to detect protein bioenergetic biomarkers in neuromuscular diseases. Following this research line, we have been granted with a CIBERER intramural project about bi- omarkers of mitochondrial PEO phenotype. In this proteomic context, Dr. Ugalde has characterized at the proteomic level the isolated complex III defi- ciencies of OXPHOS system. In collaboration with the group of Dr. Mittelbrunn (CNIC), currently in our Institute, we have participated in the work that has revealed the role of mitochondrial respiration in the control of the function of the lysosome in the inflam- matory T cell response.
In McArdle disease we have continued with the EHAC-EU European Patients’ Registry (EUROMAC) project, and have published several articles on the genetics, pathophysiology and intervention with physical exercise following our longstanding part- nership with U701_CIBERER and groups IGTIP ( Dr. Nogales-Gadea) and UEM (Prof. Lucia).
Institution: Servicio Madrileño de Salud · Contact: Hospital Universitrio 12 de Octubre
Av de Cordoba S/N 28041. Centro de Actividades Ambulatorias. I+12. 6a Planta, Bloque D, Pasillo 1. 28041 Madrid. Tel.: 91 779 27 85 · E.mail: [email protected]
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