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Jacobs, Howard: CoE in Research on Mitochondrial Disease and Ageing


The CoE focused on researching mitochondrial diseases, a diverse and surprisingly common group of diseases characterised by mitochondrial dysfunction. As yet, there is no cure for these diseases.

Mitochondria are often described as the power stations of our cells, but scientists are continuing to discover new roles for them in metabolism, inter-cell signalling and development. The functioning of mitochondria depends on genes in two different parts of the cell: in the chromosomes that are found in the nucleus and in a separate mitochondrial genotype located within the organelle.

Mitochondrial diseases typically occur in organs and tissues that are the most dependent on energy intake. These include the heart, the brain, muscles and spermatozoa.

Research aims

Scientists at the CoE were interested in studying the genes, proteins and mechanisms that are involved in the replication and repair of mitochondrial DNA as well as DNA replication into daughter cells. Another area of interest was to study dysfunctions in these mechanisms. The main objective was to gain a deeper understanding of the cellular mechanisms responsible for mitochondrial diseases and to develop treatments for these diseases.

Disease mechanisms were studied using cultured cells and model organisms such as fruit flies which carry genetic defects of mitochondrial function. The defects in these disease models resemble those seen in human patients and can be used to study how to intervene in the progress of diseases. Genetic defects accumulate in the mitochondrial genotype even in the process of normal ageing. Scientists believe that these defects are associated with many ageing-related characteristics. Therefore another major focus of research at the CoE was on the impacts of these genetic defects on cell vitality.

Scientists at the CoE worked to 1) develop, study and apply mitochondrial disease models in the Drosophila fruit fly and to explore the role of mitochondria in the ageing process; 2) study the mechanisms of neurodegenerative mitochondrial diseases and to develop treatments using different disease models; 3) study the maintenance of mitochondrial genotype and how this is impacted by disease mutations using biochemistry and cell imaging techniques; and 4) study the intracellular dynamics of mitochondria and to use the tools of genetics to reveal mechanisms that regulate the replication of different mitochondrial DNA molecules into daughter cells and that may play a central role in ageing processes.

The CoE used the tools of basic research to explore discoveries that are important to clinical medicine and to patient wellbeing. One of its major goals was to use the information gained from disease models to develop treatments that can help patients and their families.

Organisation

The CoE was headed by Academy Professor Howard Jacobs from the University of Tampere Institute of Medical Technology (IMT). It consisted of four research teams from the universities of Helsinki and Tampere.

Last modified 22 Oct 2015
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