Mitochondrial medicine

The main focus of research of the RCMM 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.

Key publications

  1. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
    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, Õunap 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. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3. PMID: 21820356

  2. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
    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. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16. PMID: 20847235

  3. Inactivating PAPSS2 mutations in a patient with premature pubarche.
    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. N Engl J Med. 2009 May 28;360(22):2310-8. doi: 10.1056/NEJMoa0810489. Erratum in: N Engl J Med. 2009 Jul 9;361(2):217. PMID: 19474428

  4. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cordinvolvement and lactate elevation.
    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. Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25. PMID: 17384640

  5. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
    Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. N Engl J Med. 2004 Nov 11;351(20):2080-6. PMID: 15537906

  6. The genetics and pathology of oxidative phosphorylation.
    Smeitink J, van den Heuvel L, DiMauro S. Nat Rev Genet. 2001 May;2(5):342-52. Review. PMID: 11331900

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