Difference between revisions of "Niehusmann 2011 Epilepsy Behav"
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{{Publication | {{Publication | ||
|title=Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS ( | |title=Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS (2011) Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery. Epilepsy Behav 20:38-43. | ||
|info=[http://www.ncbi.nlm.nih.gov/pubmed/21145289 PMID: 21145289] | |info=[http://www.ncbi.nlm.nih.gov/pubmed/21145289 PMID: 21145289] | ||
|authors=Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS | |authors=Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS | ||
|year= | |year=2011 | ||
|journal=Epilepsy Behav | |journal=Epilepsy Behav | ||
|abstract=Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy. | |abstract=Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy. | ||
| Line 11: | Line 11: | ||
|organism=Human | |organism=Human | ||
|tissues=Skeletal muscle, Nervous system | |tissues=Skeletal muscle, Nervous system | ||
|preparations= | |preparations=Permeabilized tissue, Homogenate | ||
|enzymes=Complex I, Complex IV;cytochrome c oxidase | |enzymes=Complex I, Complex IV;cytochrome c oxidase | ||
|diseases=Other | |diseases=Other | ||
|topics=Inhibitor | |||
|couplingstates=OXPHOS | |couplingstates=OXPHOS | ||
| | |pathways=N | ||
|instruments=Oxygraph-2k | |instruments=Oxygraph-2k | ||
}} | }} | ||
== Correction == | == Correction == | ||
An | An Oroboros Oxygraph-2k was used in this publication, whereas the Anton Paar/Oroboros Oxygraph was the first-generation instrument for high-resolution respirometry, which was replaced by the Oxygraph-2k in 2002. | ||
* ''Further details'': [[Gnaiger 2012 Abstract Bioblast-Gentle Science]] | * ''Further details'': [[Gnaiger 2012 Abstract Bioblast-Gentle Science]] | ||
Latest revision as of 14:50, 23 January 2019
| Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS (2011) Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery. Epilepsy Behav 20:38-43. |
Niehusmann P, Surges R, von Wrede RD, Elger CE, Wellmer J, Reimann J, Urbach H, Vielhaber S, Bien CG, Kunz WS (2011) Epilepsy Behav
Abstract: Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy.
Labels: MiParea: Respiration, Genetic knockout;overexpression, Patients
Pathology: Other
Organism: Human Tissue;cell: Skeletal muscle, Nervous system Preparation: Permeabilized tissue, Homogenate Enzyme: Complex I, Complex IV;cytochrome c oxidase Regulation: Inhibitor Coupling state: OXPHOS Pathway: N HRR: Oxygraph-2k
Correction
An Oroboros Oxygraph-2k was used in this publication, whereas the Anton Paar/Oroboros Oxygraph was the first-generation instrument for high-resolution respirometry, which was replaced by the Oxygraph-2k in 2002.
- Further details: Gnaiger 2012 Abstract Bioblast-Gentle Science
