Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

• Published in: Orphanet Journal of Rare Diseases Vol. 16
• Main Authors: Reinert, Marie-Christine, Pacheu-Grau, David, Catarino, Claudia B., Klopstock, Thomas, Ohlenbusch, Andreas, Schittkowski, Michael, Wilichowski, Ekkehard, Rehling, Peter, Brockmann, Knut, Reinert, Marie-Christine; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany, Pacheu-Grau, David; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany, Catarino, Claudia B.; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany, Klopstock, Thomas; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany, Ohlenbusch, Andreas; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany, Schittkowski, Michael; Department of Ophthalmology, Section for Strabismus, Neuroophthalmology and Oculoplastics, University Medical Center Göttingen, Göttingen, Germany, Wilichowski, Ekkehard; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany, Rehling, Peter; Max Planck Institute for Biophysical Chemistry, Göttingen, Germany, Brockmann, Knut; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany
• Format: Journal Article
• Language: Japanese
• Published: Springer Science and Business Media LLC 04.02.2021
• Subjects: Adverse effects; Carbonic anhydrase inhibitor; Child; DNA, Mitochondrial; drug therapy [Optic Atrophy, Hereditary, Leber]; Female; Female [MeSH] ; Mutation [MeSH] ; Oxygen consumption rate ; Adverse effects ; DNA, Mitochondrial [MeSH] ; Humans [MeSH] ; Mitochondria [MeSH] ; Optic Atrophy, Hereditary, Leber/drug therapy [MeSH] ; Leber hereditary optic neuropathy ; Pediatric neurology ; Optic Atrophy, Hereditary, Leber/genetics [MeSH] ; LHON ; Smoking [MeSH] ; Thiazines [MeSH] ; Male [MeSH] ; Research ; Carbonic anhydrase inhibitor ; Sulthiame ; Child [MeSH]; genetics [Optic Atrophy, Hereditary, Leber]; Humans; Leber hereditary optic neuropathy; LHON; Male; Medicine; Mitochondria; Mutation; Optic Atrophy, Hereditary, Leber; Oxygen consumption rate; R; Smoking; sulthiame; Thiazines
• ISSN: 1750-1172
• DOI: 10.1186/s13023-021-01690-y