Mitochondrial function and pathology in status epilepticus.

Abstract

The mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. We have studied two types of mitochondrial disease: one arising from a defect in mitochondrial DNA (mtDNA) (MELAS) and one due to a nuclear gene mutation (POLG). These two disorders show similarities in their clinicopathologic evolution and in findings in postmortem samples. Our findings based on antemortem magnetic resonance imaging (MRI) and postmortem studies suggest that the status epilepticus that is seen in both appears to be the result of cortical damage resulting from a common mechanism, namely energy failure.

• Authors: Laurence A Bindoff
• Journal: Epilepsia (Epilepsia) Vol. 52 Suppl 8 Pg. 6-7 (Oct 2011) ISSN: 1528-1167 [Electronic] United States
• PMID: 21967349 (Publication Type: Journal Article)
• Copyright: Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Chemical References

• DNA, Mitochondrial
• DNA Polymerase gamma
• DNA-Directed DNA Polymerase
• POLG protein, human

Topics

• DNA Polymerase gamma
• DNA, Mitochondrial (genetics)
• DNA-Directed DNA Polymerase (genetics)
• Humans
• Mitochondria (genetics, pathology)
• Mitochondrial Diseases (complications)
• Mutation (genetics)
• Status Epilepticus (etiology, genetics, pathology)