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Testing xenoexpression as gene therapy for mitochondrial diseases

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : Patricio Fernández Silva

Research Centre or Institution : Facultad de Veterinaria. Universidad de Zaragoza

Abstract

Diseases 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.

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