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 mitochondrial disease and the development of new treatment strategies.

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). Since 2010 he is chairman of the Centre for Systems Biology and Bioenergetics.  Since March 2011 he is Chief Executive Officer of Khondrion (www.khondrion.com), the mitochondrial medicine company.

National & International Personal Prizes & Awards

• Prinses Beatrix Foundation Jubilee Award (2006)
• Foreign Adjunct Professor Karolinska Institute (2006)

• Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Ounap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. Lancet Neurol. 10:806-18, 2011.

• Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 330:336, 2010.

• Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W. Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med. 360:2310-8, 2009. 

• 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. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 39:534-9, 2007.

• Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med. 351:2080-6, 2004.

• Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet. 2:342-52, 2002.