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university of tampere: faculty of medicine and life sciences: research: howy jacobs - mitochondrial genetics - mitochondrial biology: projects:
Lääketieteen ja biotieteiden tiedekunta FinMIT Centre of Exellence in research on  mitochondrial disease and ageing University of Tampere Institute of Biomedical Technology - IBT
Howy Jacobs - Mitochondrial Genetics - Mitochondrial Biology

Models

Models of mitochondrial disease

Mitochondrial DNA mutations result in a bewildering array of pathological phenotypes.  One key goal of our work is to use model systems to dissect the processes at the cellular and organismal levels which lead to these pathological manifestations, and test out possible approaches to therapy.

Studies in cell culture have revealed the key role of nuclear genetic background in determining the outcome of mitotic segregation, where heteroplasmic mixtures of wild-type and mutant mtDNA co-exist.  They have also demonstrated, for specific mitochondrial tRNA mutations, the importance of pre-tRNA processing and base-modification defects in the expression of pathological phenotypes.  We are also studying the regulation of key nuclear genes for the mitochondrial translational apparatus, which impinge upon mitochondrial disease phenotypes.

Whole organism models such as Drosophila give clues as to the ways in which defective mitochondrial oxidative phosphorylation affects physiology, development and even behaviour.  Our current approach focuses on identifying the pathways that are induced in response to mitochondrial stress.  We are also using genetic analysis of inbred or mutant lines in which pathological phenotypes are suppressed, to reveal ways in which human mitochondrial diseases might be overcome.  Lastly, we are testing the effects of using molecular bypasses, such as the allotopic expression of the alternative oxidase (AOX) from the ascidian Ciona intestinalis, as a strategy for overcoming the deleterious consequences of mitochondrial disease mutations.

The work involves long-term collaborations with the laboratories of Kevin O'Dell in Glasgow, Pierre Rustin in Paris,Tsutomu Suzuki in Tokyo and Ian Holt in Cambridge, as well as with numerous other partners.  It is funded by the University of Tampere, the Academy of Finland, Tampere University Hospital Medical Research Fund, Juselius Foundation and the European Union.

 
Faculty of Medicine and Life Sciences
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Last update: 9.10.2014 13.43 Muokkaa

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