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Geert Grooteplein 10
PO BOX 9101
6500 HB Nijmegen
T: +31 24 3619470
F: +31 24 3616428

Jan Smeitink is full professor in Mitochondrial Medicine since January first 2001. He is chairperson of the  Nijmegen Centre for Mitochondrial Disorders  and Head of the Department of Metabolic and Endocrine Disorders of the University Medical Centre Nijmegen. In 2006 he was appointed for six years as Foreign Adjunct Professor at the Karolinska Institutet, Stockholm, Sweden. August 2006 he received from Her Majesty the Queen the Prinses Beatrix Foundation Jubilee Award for his research on mitochondrial medicine.  Since April 1 2008 he is Director of the Institute of Genetic and Metabolic Disease (www.igmd.nl)
Prof. dr. Jan A.M. Smeitink

Research interests include the study of the mitochondrial OXPHOS system in health and disease with special emphasis on the elucidation of genetic defects underlying complex I and other OXPHOS-system enzyme deficiencies. Cell lines harbouring genetic defects are used as human model systems to provide insights into the cellular biological consequences of such defects. His goals are to enhance the understanding of human mitochondrial complex I assembly, the pathophysiological consequences of OXPHOS-system disease and the development of new treatment strategies.

 
Recent key publications

Smeitink J, van den Heuvel LP, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nature Review Genetics 2001. 2: 342-352.

Visch HJ, Rutter GA, Koopman WJ, Groot TdT, Varadi A, Mitchell K, Heuvel van den L, Smeitink JA, Willems PH. Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. J Biol Chem 2004, Sep 24;279(39):40328-36.

Coenen MJH, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JGAM, Newbold RF, Trijbels JMF, Heuvel van den LP, Shoubridge EA, Smeitink JAM. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. New Engl J Med. 2004 Nov 11;351(20):2080-6.



For more publications see the NCMD-site.