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Projects. Life and Earth Sciences

Testing xenoexpression as gene therapy for mitochondrial diseases

Lead Researcher: 
Patricio Fernández Silva 

Research Centre:
Facultad de Veterinaria. Universidad de Zaragoza.

Synopsis:
Patricio FernándezDiseases caused by OXPHOS defects occur primarily as neurological, muscular, cardiac or endocrine dysfunction and for the time being lack effective treatments. The group is testing gene therapy for these diseases using xenoexpression in mammalian enzyme replacement cells. Specifically, we propose the in vivo expression of AOX monopeptide oxidase and NDI1 alternative yeast dehydrogenase, both capable of reversing a defective phenotype caused by OXPHOS failures in cultures. The aim is to determine whether AOX is able to reverse embryo fatality in a mouse without respiratory complex IV (Cox10 / ). The possible compensation by AOX for the pathological phenotype in the muscle-specific Cox10-/- mouse will also be studied.


SCIENTIFIC PRODUCTION

6 articles published in Journals
1 paper at international conferences 
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Patricio Fernández Silva 
Dr. Patricio Fernández Silva, has extensive experience in the study of the biogenesis and pathology of mitochondrial DNA. After completing his Ph.D. thesis at the University of Zaragoza (1986-1991) in the analysis of the expression of mtDNA, under the supervision of Prof. Julio Montoya and Prof. Manuel José López-Pérez, which was funded by a grant from the Spanish Ministry of Education and Science, he joined the laboratory of Prof. Giuseppe Attardi at the California Institute of Technology (1992-1996) as a postdoctoral researcher. In 1996 he joined the Molecular Medicine Unit at Bambino Gesù Paediatric Hospital (Rome) under the supervision of Dr. Massimo Zeviani, where he participated in the identification of new genes involved in mitochondrial biogenesis/pathology. In 1998, he rejoined the Department of Biochemistry at the University of Zaragoza, and in 2003 consolidated his position as a senior lecturer. In this period, together with Prof. Dr. José Antonio Enriquez and Prof. Dr. Acisclo Pérez Martos, he participated in the formation of the research group on the functional genetics of the oxidative phosphorylation system (GENOXPHOS Group) of which he is a member.
 
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