Page 116 - MEMOCiberer014-ENG
P. 116
RESEARCH GROUPS
Group U727
Programme: Mitochondrial and Neuromuscular Medicine
Lead Researcher: Montoya, Julio Group Members
STAFF MEMBERS: Emperador Ortiz, Sonia | López Gallardo, Ester ASSOCIATED MEMBERS: Llobet Sese, Laura | López Pérez, Manuel José | Ruiz Pesini, Eduardo
Main lines of research
• Genetic and molecular diagnosis of mitochondrial DNA disorders and study of the physiopathogenic mechanism of mutations .
• Study of mtDNA population genetic variants conferring susceptibility to multifactorial diseases . • Characterization of environmental factors interacting with the genetic pool in susceptibility develop-
ment .
• Search of drugs acting on the OXPHOS system .
• Human chronic fatigue and pain syndromes .
• Use of dtam cell as a model for he study of Physiopatologic mechanism of thr new mutations in the mitochondrial DNA .
• mtDNA variation and neurodegenerative diseases . • Improvement of the model of cybrids for the study of pathological mutations .
116 CIBERER » Annual report 2014
