Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Marie Anne-Catherine Neumann 1 2, Dajana Grossmann 3, Simone Schimpf-Linzenbold 4 5, Dana Dayan 6, Katarina Stingl 7, Reut Ben-Menachem 8, Ophry Pines 8 9, François Massart 1, Sylvie Delcambre 1, Jenny Ghelfi 1, Jill Bohler 1, Tim Strom 10, Amit Kessel 6, Abdussalam Azem 6, Ludger Schöls 11 12, Anne Grünewald 1 13, Bernd Wissinger 5 7, Rejko Krüger 14 15 16
  1. Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  2. Faculty of Medicine, RWTH Aachen University, Aachen, Germany.
  3. Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. dajana.grossmann@med.uni-rostock.de.
  4. CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  5. Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tübingen, Germany.
  6. School of Neurobiology, Biochemistry and Biophysics, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
  7. Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.
  8. Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  9. NUS-HUJ-CREATE Program and the Department of Microbiology, School of Medicine, National University of Singapore, Singapore, Singapore.
  10. Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
  11. Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  12. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  13. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  14. Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. rejko.krueger@uni.lu.
  15. Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Strassen, Luxembourg. rejko.krueger@uni.lu.
  16. Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), Luxembourg, Luxembourg. rejko.krueger@uni.lu.