Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.
A broad variety of mutations of the mitochondrial DNA or nuclear genes that lead to the impairment of mitochondrial respiratory chain or mitochondrial ATP synthesis have been associated with epileptic phenotypes. Additionally, evidence for an impaired mitochondrial function in seizure focus of patients with temporal lobe epilepsy and Ammon's horn sclerosis, as well as, animal models of temporal lobe epilepsy has been accumulated. This implies a direct pathogenic role of mitochondrial dysfunction in the process of epileptogenesis and seizure generation in certain forms of epilepsy.
Division of Neurochemistry, Department of Epileptology, University Bonn Medical Center, Sigmund-Freud-Str. 25, D53105, Bonn, Germany.
Gábor
G
Zsurka
Wolfram S
WS
Kunz
D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics*; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D004579:Electron Transport / Q000235:genetics; D004827:Epilepsy / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008928:Mitochondria / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype
D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase