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.

Objectives

  • 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 MD PhD
full professor

+31 (0)24 361 44 30

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Societal impact

More information will follow soon.

Lines of research


Structure and function of molecules and complexes

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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News and agenda

Organisation


Researchers Mitochondrial diseases

See the researchers related to this theme.

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Centers of clinical expertise

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.

go to center (Dutch)

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

Research group leaders

Affiliated institutes and centers

Donders Institute for Brain, Cognition and Behaviour

The mission of the Donders Center for Medical Neuroscience is to carry out world class research that advances our knowledge on how the nervous system develops and functions and how it is altered by disease, injury, genetic, and environmental factors like stress.

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Radboud Institute for Health Sciences

Ideally, every procedure in clinical practice and public health should take place based on proof, instead of intuition or 'experience'. Our aim is to improve clinical practice and public health.

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Radboud Institute for Molecular Life Sciences

Our main aim is to achieve a greater understanding of the molecular mechanisms of disease. By integrating fundamental and clinical research, we obtain multifaceted knowledge of (patho)physiological processes.

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Radboudumc 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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Radboudumc Technology Center Genomics

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

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Radboudumc 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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Radboudumc 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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