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February 2021
Frontiers in Molecular Neuroscience
Krinner S, Predoehl F, Burfeind D, Vogl C, Moser T
February 2021
EMBO Reports
Yousefi R, Fornasiero EF, Cyganek L, Montoya J, Jakobs S, Rizzoli SO, Rehling P, Pacheu-Grau D
February 2021
Life
Möbius W, Hümmert S, Ruhwedel T, Kuzirian A, Gould R
February 2021
Molecular & Cellular Proteomics
Silbern I, Pan KT, Fiosins M, Bonn S, Rizzoli SO, Fornasiero EF, Urlaub H, Jahn R
February 2021
Molecular Neurobiology
Epple R, Krüger D, Berulava T, Brehm G, Islam R, Köster S, Fischer A
February 2021
EMBO Journal
Sawicka A, Villamil G, Lidschreiber M, Darzacq X, Dugast-Darzacq C, Schwalb B, Cramer P
February 2021
Development
Ulmke PA, Xie Y, Sokpor G, Pham L, Shomroni O, Berulava T, Rosenbusch J, Basu U, Fischer A, Nguyen HP, Staiger JF, Tuoc T
February 2021
Nature Communications
Scheffler K, Uraji J, Jentoft I, Cavazza T, Mönnich E, Mogessie B, Schuh M
February 2021
Orphanet Journal of Rare Diseases
Reinert MC, Pacheu-Grau D, Catarino CB, Klopstock T, Ohlenbusch A, Schittkowski M, Wilichowski E, Rehling P, Brockmann K

Authors

Reinert MC, Pacheu-Grau D, Catarino CB, Klopstock T, Ohlenbusch A, Schittkowski M, Wilichowski E, Rehling P, Brockmann K

Journal

Orphanet Journal of Rare Diseases

Citation

Orphanet J Rare Dis. 2021 Feb 4;16(1):64.

Abstract

Background: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mutation carriers include smoking, heavy intake of alcohol, raised intraocular pressure, and some drugs, including several carbonic anhydrase inhibitors. The antiepileptic drug sulthiame (STM) is effective especially in focal seizures, particularly in benign epilepsy of childhood with centrotemporal spikes, and widely used in pediatric epileptology. STM is a sulfonamide derivate and an inhibitor of mammalian carbonic anhydrase isoforms I-XIV.

Results: We describe two unrelated patients, an 8-year-old girl and an 11-year-old boy, with cryptogenic focal epilepsy, who suffered binocular (subject #1) or monocular (subject #2) visual loss in close temporal connection with starting antiepileptic pharmacotherapy with STM. In both subjects, visual loss was due to LHON. We used real-time respirometry in fibroblasts derived from LHON patients carrying the same mitochondrial mutations as our two subjects to investigate the effect of STM on oxidative phosphorylation. Oxygen consumption rate in fibroblasts from a healthy control was not impaired by STM compared with a vehicle control. In contrast, fibroblasts carrying the m.14484T>C or the m.3460G>A LHON mutation displayed a drastic reduction of the respiration rate when treated with STM compared to vehicle control.

Conclusions: Our observations point to a causal relationship between STM treatment and onset or worsening of visual failure in two subjects with LHON rather than pure coincidence. We conclude that antiepileptic medication with STM may pose a risk for visual loss in LHON mutation carriers and should be avoided in these patients.

DOI

10.1186/s13023-021-01690-y
 
Pubmed Link

 

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