MITOCHONDRIAL MEDICINE

MITOCHONDRIAL MEDICINE

The main focus of research of the NCMD mitochondrial medicine group is the definition of new clinical, biochemical and genetic mitochondrial defects, a detailed understanding of the cell biological consequences of disease and the development of new treatment strategies. The group is involved in the preparation of diagnostic guidelines, the improvement of European databases for mitochondrial patients and the development of treatment for mitochondrial dysfunction.

Prof. Smeitink is chairman of the NCMD, coordinator of the overall NCMD research programme, and coordinator of multi-centre research programmes like IOP-Genomics and the PBF Jubilee grant. Since June 1st 2006 he is appointed for six years as Foreign Adjunct Professor at the Karolinksa Institutet, Stockholm, Sweden. Since April 2009 he is director of the Institute for Genetic and Metabolic Disease (http://www.igmd.nl/)  and since the beginning of 2009 director of the Centre for Systems Biology and Bioenergetics (www.csb-bioenergetics.nl).

Contact
Prof. Dr. Jan A.M. Smeitink, MD, PhD
Nijmegen Centre for Mitochondrial Disorders
833 Department of Pediatrics
Radboud University Nijmegen Medical Centre
Geert Grooteplein 10
PO BOX 9101
NL-6500 HB Nijmegen
The Netherlands
Phone: +31-24-3619470
Fax: +31- 24-3668532
e-mail: J.Smeitink@cukz.umcn.nl

Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA. (2009) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.  Brain. 132(Pt 4):833-42.

Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP. (2008) NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet. 82(6):1306-15.

Vogel RO, Janssen RJ, van den Brand MA, Dieteren CE, Verkaart S, Koopman WJ, Willems PH, Pluk W, van den Heuvel LP, Smeitink JA, Nijtmans LG. (2007) Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev. 2007 Mar 1;21(5):615-24.

Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. (2007) Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genetics. 39(4):534-9.

Smeitink J, Zeviani M, Turnbull D, Jacobs HJ. (2006) Mitochondrial Medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell (Metabolism), 3: 9-13.

Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ,van den Heuvel B, Shoubridge EA. (2006)Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 79(5):869-77.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. (2004) Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.New Engl J Med. 351 (20):2080-2086.

J Smeitink, LP van den Heuvel, S DiMauro. (2001)The genetics and pathology of oxidative phosphorylation. Nature Review Genet 2(5): 342-352.

M Schuelke, J Smeitink, E Mariman, J Loeffen, B Plecko, F Trijbels, S Stockler-Ipsiroglu, L van den Heuvel.(1999) Mutant NDUFV1 subunit of mitochondrial complex i causes leukodystrophy and myoclonic epilepsy. Nature Genetics 21:260-261.

K  Brinkman, J Smeitink, JA Romijn, P Reiss. (1999) Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy related lipodystrophy. Lancet 354:1046-1047.