Programme details

Researchers from all over Europe several times a year come to discuss their common centre of interest, mitochondria and the diseases that can affect them. This network of European researchers contributes to a common project called Mbad for Mitochondrial Biogenesis, Ageing and Disease.
Mitochondria have a major influence on the human body, they are the power stations or the engines of cells. They are structures in the cells that provide biological energy for all activities of life. One obvious driving force for our research has been the fact that, when mitochondria go wrong, they are involved in a number of different disease states, such as, for instance: diabetes, deafness, various forms of eye diseases, retinopathy, muscle disease, heart muscle disease specifically, and some degenerative conditions.

Mitochondrial Diseases

In Europe it is estimated that mitochondrial diseases affected one birth out of one hundred thousand ten years ago, but this has jumped to one out of ten thousand today and we have no idea how this figure will evolve in the further given the role that mitochondria play in the organism. One thing is certain – there are 40,000 genes in the human genome and at least one thousand of them code the components of mitochondria. Consequently, potentially mitrochondria could explain one genetic disease out of 40.
Either these diseases affect the entire organism or specific organs. They can act in isolation or by association. From a clinical standpoint, they characterise myopathy, cardiomyopathy, diabetes, Parkinson's disease and certain types of cancer among others … To a certain extent the mitochondria are even involved in AIDS. In every case, they stem from malfunctioning of very complex mechanisms.

Mitochondrial DNA

To function, and produce the energy that is absolutely fundamental for the cells, the mitochondria use two genetic systems that must work together. Part of the genetic information needed to produce the enzymes that do the job come from the nucleus, another part from a small genome – a little piece of DNA contained in the mitochondria that is called mitochondrial DNA. Mutations of either the genes in the nucleus or the genes in the mitochondrial DNA producing the proteins involved in this process, can determine the various mitochondrial diseases.
One of the particularities associated with mitochondrial DNA is that the characteristics are transmitted essentially by the mother. When the spermatozoid meets an ovocyte that contains hundred of thousands of mitochondria, only those of the mother are transmitted to the child. With a few rare exceptions, the information associated with the father's mitochondria is destroyed.

Mitochondria and Ageing

Research on mitochondrial diseases has just taken a step forward in the halls of the Swedish Institute. Professor Larsson's team has clearly established the relationship between mitochondria and early aging of the organism.
The team studied the role played by mutations in heredity of mitochondria, and their role in mitochondrial DNA. When we age, lesions appear in the mitochondrial DNA. Thanks to an animal model that we have created, we obtained mice suffering from a high level of accidents affecting the mitochondrial DNA. And these animals age faster than the average. Today, we have data showing that there is a relationship between mitochondrial DNA and ageing. »

Conclusion

This network of researchers has pooled very complementary disciplines like biochemistry, genetics, cellular biology and pathology of mitochondria for more than 15 years. From Stockholm to Milan via London, Tampere and Paris, the complexity of mitochondrial diseases is a perfect illustration of the need for cross-border collaboration to find adequate medical solutions.
For this reason, these scientists' general project has just won one of the two Descartes 2004 prizes – a European prize awarded not to a team of researchers but to several teams of researchers. Like the Nobel prize, this distinction recognizes significant discoveries in the field of sciences.