Page 93 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
o’callaghan mm, emPerador s, Pineda m, lóPeZ-gallar- do e, montero r, YuBero d, Jou c, JiméneZ-malleBrera c, nascimento a, Ferrer i, garcía-caZorla a, ruiZ-Pesini e, montoYa J, artuch r. “Mutation loads in different tis- sues from six pathogenic mtDNA point mutations”. Mito- chondrion 2015; 22(May): 17-22.
lloBet l, montoYa J, lóPeZ-gallardo e, ruiZ-Pesini e. “Side effects of culture media antibiotics on cell differenti- ation”. Tissue Engineering Part C 2015; 21(11): 1143-47.
ormaZaBal a, casado m, molero m, montoYa J, rahman s, aYlett sB, hargreaVes i, heales s, artuch r. “Can fo- lic acid have a role in mitochondrial disorders?”. Drug Dis- cov Today 2015; 20(11): 1349-54.
lloBet J, toiVonen, J m, montoYa J, ruiZ-Pesini e, lóPeZ-gallardo e. “Xenobiotics that affect oxidative phosphorylation alter differentiation of human adi- pose-derived setem cells at concentrations that are found in human blood”. Disease Models & Mechanisms.
lorente l, martín mm, lóPeZ-gallardo e, Blanquer J, solé-Violán J, laBarta l, díaZ c, JiméneZ a, montoYa J, ruiZ-Pesini e. “Decrease of OXPHOS function in severe septic patients”. Journal of Critical Care 2015; 30(5): 935-9.
Highlights
RESEARCH PROJECTS
1. ”New mutations in the mitochondrial DNA associ- ated with diseases: Characterization in differenti- ated neurons and myocytes transmitocondriales cybrids”. PI: Julio Montoya. Instituto de salud Car- los III FIS PI14/00005. 2015-20172
2.“Mitochondrial Pharmacogenomics in Alzheim- er’s disease”. PI:Eduardo Ruiz Pesini. Instituto de Salud Carlos III FIS PI14/00070. 2015-20173.
3. Cconsolidated Group of applied research of Bi- ogenesis and pathology mitochondrial B33. PI: Julio Montoya. 2014-2016. Diputacion General Aragon.
RESULTS.
Molecular-genetic Studies on mitocondrial DNA: se- quencing of full mtDNA of 19 patients and other 14 specific genes. Found 3 new mutations (1 in a mitochondrial gene coding for protein and 2 in mt- tRNAs).
Construction of transmitochondrial cybrids of 3 pa- tients with mutations candidates to be pathological.
2015; 8(11): 1441-55.
Application of the Blue Native-PAGE technique, 1D and 2D, and measurement of the activity of the OX- PHOS complexes “in gel”.
Analysis of mutations in new patients: analyzed 77 pa- tients and 43 family membres. Found 46 mutations who correspond a: 12 of the 3243 mutation, 13 of the 3460, 5 of the 1555, 1 of the 13513, 2 depletions and 9 deletions. The rest of the positive samples be- longed to new or described mutations in very few cases.
Study of mutations in nuclear genes that cause mito- chondrial pathology: patients without any mutation in mtDNA were analizad for the presence of muta- tions nuclear genes panels (in collaboration with an- other CIBERER center). Mutations have been found in several nuclear genes that may explain the pathol- ogy of these patients. The normal phenotype was rescued by transfection of the patient fibroblasts with the gene wild-type gene. These studies have been conducted successfully in a patient whose re- sults are in the way of publication.
Seminars and conferences: 5 national and interna- tional.
Institution: Universidad de Zaragoza · Contact: Facultad de Veterinaria. Miguel Servet, 117. 50013 Zaragoza Tel.: 976 761 640 · E.mail: [email protected]
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