Research theme Mitochondrial diseases

Mitochondrial diseases About theme

This theme, which is closely associated with the Radboud Center for Mitochondrial Medicine (RCMM), aims to understand cellular bio-energetics in health and disease at all levels of complexity.

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Mitochondrial diseases About theme

This theme, which is closely associated with the Radboud Center for Mitochondrial Medicine (RCMM), aims to understand cellular bio-energetics in health and disease at all levels of complexity. This will enable the development of preventive measures and help to make substantial contributions to the development of rational treatment strategies for mitochondrial diseases. The theme’s strategy is founded on the understanding that true innovation in healthcare requires the full integration of unbiased fundamental research at all levels of complexity. Only then can we increase knowledge, accomplish innovation in personalized diagnostics, perform high-quality clinical research and realize applications to patient care.
The theme Mitochondrial diseases concentrates on three research topics:
  • The structure and function of molecules and complexes
  • Cellular consequences
  • Clinical aspects of mitochondrial disorders.


  • We aim to identify new gene defects in the oxidative phosphorylation system and to characterize the cellular mechanisms involved.
  • We aim to elucidate the molecular mechanism and regulation of mitochondrial complex I based on the atomic structure.
  • We aim to resolve the complete assembly pathway of mitochondrial complex I and to identify and functionally characterize new components of the assembly machinery.
  • We will study the dynamics of the mitochondrial complexome in health and disease.
  • We will explore the tissue-specific inventory and regulation of the complexes of oxidative phosphorylation and their correlation with specific phenotypes.
  • We will investigate the links and mechanisms connecting genetic defects with organ-specific disease phenotypes.
  • We will further develop tools to monitor the metabolic state and bio-energetic status of mitochondria in living cells and tissues.
  • We will study the influence of environmental factors on the progression of mitochondrial disease.
  • We will develop a toolbox of biomarkers and relevant clinical outcome measures to monitor progression of mitochondrial disease and the effect of therapeutic interventions.
  • We will perform long-term follow-up studies on defined patient cohorts.
  • We will explore new therapeutic approaches to mitochondrial diseases.

Theme leader

Jan Smeitink PhD
+31 (0)24 361 44 30
full professor

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Lines of research

Structure and function

In this research line we study the molecules that form the structural basis and execute the various functions of mitochondria.

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Cellular consequences

In this research line we aim to understand how mitochondrial energy metabolism is connected to cell biological processes.

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Clinical aspects

In this line of research we aim to make substantial contributions to the well being of the patients we care for.

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Researchers Mitochondrial diseases

See the researchers related to this theme.

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Our research Mitochondrial diseases

Discover some of our research that is connected to this theme.

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Expertise centers

Information might be only available in Dutch.

The Radboud Center for Mitochondrial Medicine

The RCMM is an international expert center for clinical care, diagnostics and research for patients with or suspected of having a mitochondrial energy disorder.

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Affiliated institutes and centers

Technology center Biostatistics

Through the Radboudumc Technology Center for Biostatistics researchers have access to collaboration with a specialist statisticians who are able to keep up with fast-moving developments in the relevant area.

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Technology center Genomics

The Genomics Technology Center offers state-of-the-art expertise in the forefront of sequencing technology developments.

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Technology center Mass spectrometry

The Technology Center for Mass Spectrometry offers high-level expertise in bioanalytical mass spectrometry combined with in-depth knowledge on biomedical and clinical applications, embedded in a cutting-edge clinical and fundamental research environment.

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Technology center Microscopic Imaging Center

The Microscopic Imaging Center offers access to both standard and innovative advanced microscopy infrastructure and applications including technical operator-assistance and in-depth microscopic imaging knowledge.

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Research group leaders

Answers in Dutch

Information on our research can also be found in Dutch on the Nationale Wetenschapsagenda website. The information here answers questions asked by Dutch citizens.

Nationale Wetenschapsagenda