Anna Wredenberg

Project summary

Studies of mitochondrial function to understand mechanisms of disease development

Mitochondria are often described as the powerhouses of the cell, as most of the energy used by cells is generated by the mitochondrial network. This network is dynamic and continuously changes its shape to adapt to the needs of the cell. Impaired mitochondrial function not only causes a range of inherited genetic disorders but has also been associated with various age-related diseases and with the normal ageing process.

 

Mitochondrial diseases are caused by genetic alterations and can result in a wide variety of symptoms. The mechanisms underlying these diseases remain largely unknown, and our understanding of the fundamental regulation of mitochondrial function is also insufficient.

 

As there are currently no treatments for mitochondrial diseases, studying mitochondria and their regulation is essential for understanding the causes of these conditions. The research project uses the fruit fly as a model system. Fruit flies have been used to study gene function for more than 100 years, and their mitochondrial system is remarkably similar to that of mammals. Studies of fundamental mitochondrial functions in fruit flies can therefore provide insights into how the same system works in humans.

 

The fruit fly is also a particularly useful genetic model because its DNA can be manipulated relatively easily: genes can be duplicated or deleted, and specific mutations can be introduced. At the same time, the diagnosis of genetic diseases has advanced rapidly, and we now have access to unique patient-derived material that can help drive the research forward.

 

The study recreates specific mutations that cause mitochondrial dysfunction in fruit flies and examines the underlying disease processes in a complete physiological system. These specific mutations can also be used in screening experiments to identify compounds with the potential to treat patients. The study will increase our understanding of how mitochondrial function is regulated and how mitochondrial dysfunction causes disease.