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Int. J. Mol. Sci. 2017, 18(9), 1845; doi:10.3390/ijms18091845

Understanding the Epilepsy in POLG Related Disease

1
Department of Pediatrics, Haukeland University Hospital, 5021 Bergen, Norway
2
Department of Clinical Medicine (K1), University of Bergen, 5020 Bergen, Norway
3
K.G. Jebsen Center for Research on Neuropsychiatric Disorders, University of Bergen, 5009 Bergen, Norway
4
Department of Biological and Medical Psychology, University of Bergen, 5009 Bergen, Norway
5
Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway
*
Author to whom correspondence should be addressed.
Received: 21 July 2017 / Revised: 18 August 2017 / Accepted: 21 August 2017 / Published: 24 August 2017
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Abstract

Epilepsy is common in polymerase gamma (POLG) related disease and is associated with high morbidity and mortality. Epileptiform discharges typically affect the occipital regions initially and focal seizures, commonly evolving to bilateral convulsive seizures which are the most common seizure types in both adults and children. Our work has shown that mtDNA depletion—i.e., the quantitative loss of mtDNA—in neurones is the earliest and most important factor of the subsequent development of cellular dysfunction. Loss of mtDNA leads to loss of mitochondrial respiratory chain (MRC) components that, in turn, progressively disables energy metabolism. This critically balanced neuronal energy metabolism leads to both a chronic and continuous attrition (i.e., neurodegeneration) and it leaves the neurone unable to cope with increased demand that can trigger a potentially catastrophic cycle that results in acute focal necrosis. We believe that it is the onset of epilepsy that triggers the cascade of damage. These events can be identified in the stepwise evolution that characterizes the clinical, Electroencephalography (EEG), neuro-imaging, and neuropathology findings. Early recognition with prompt and aggressive seizure management is vital and may play a role in modifying the epileptogenic process and improving survival. View Full-Text
Keywords: POLG; epilepsy; mitochondria; mtDNA; mechanism; occipital lobe epilepsy; status epilepticus; stroke-like episodes POLG; epilepsy; mitochondria; mtDNA; mechanism; occipital lobe epilepsy; status epilepticus; stroke-like episodes
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Hikmat, O.; Eichele, T.; Tzoulis, C.; Bindoff, L.A. Understanding the Epilepsy in POLG Related Disease. Int. J. Mol. Sci. 2017, 18, 1845.

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