Mitochondrial metabolism in health and disease – Anna Wredenberg group

Metabolism is the complex network of chemical transformations within a living cell, required to sustain its viability. Mitochondria play a central role within most eukaryotic cells, by combining many different metabolic pathways, such as glucose and lipid metabolism, steroid and haem synthesis or apoptosis and calcium buffering. The Wredenberg group is interested in how mitochondrial dysfunction effects the rest of the cell, with a specific focus on energy metabolism.

Research interest

Mitochondria are an organelle network within the majority of eukaryotic cells that undergo dynamic and complex changes of motility, shape and metabolism in response to environmental stimuli and energetic requirements.

Understanding these processes, their signals and molecular basis is essential in order to appreciate the defects involved in a range of inborn errors of metabolism, but also how mitochondrial function influences common diseases, such as heart disease, diabetes, cancers, neurodegeneration or autoimmune diseases.

Mitochondria contain their own genome, a small, circular DNA molecule (mtDNA), situated in multiple copies within mitochondria.

Our research aims to understand regulatory mechanisms of mitochondrial DNA and RNA metabolism, and what influences mitochondrial gene expression and RNA turnover.

For this we predominantly use the fruit fly, Drosophila melanogaster, as a model system, analysing RNAi knock-down lines or knock-out and knock-in models made in-house. Flies are then analysed by a range of molecular biological and biochemical techniques, as well as a range of omits approaches, to understand the molecular mechanisms at hand.

Anna Wredenberg is a specialist in clinical genetics at the Centre for Inherited Metabolic Diseases at the Karolinska University Hospital, Stockholm, Sweden, which has specialised on rare genetic diseases involving mitochondrial dysfunction. Advances in sequencing technology has enabled us to rapidly diagnose many known inborn errors of metabolism, but has also lead to a surge in novel disease-candidates, where pathogenicity needs to be validated.

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Our group closely interacts with the clinic to identify and validate novel inborn errors of metabolism and to understand the molecular basis of disease formation. For this we use a range of model systems, including fly and mammalian models, as well as primary patient cells or reprogrammed neuronal stem cells.

Cell and Molecular Biology Medical Biotechnology (focus on Cell Biology (incl. Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) Medical Genetics
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