Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy.

Abstract

Since the characterisation of mitochondrial DNA (mtDNA) in 1981 (l), interest in the potential role of mitochondria in human disease states has exponentially intensified. Our understanding of mitochondrial function has improved dramatically over the last decade (2), and with the identification of the first human pathogenetic mtDNA mutations in 1988 (3,4), a new class of diseases was born. As the prime energy source within the cell, mitochondria play a vital role in supporting a diverse range of cellular functions. Thus it is no surprise that any disruption to normal mitochondrial function can result in disease states, or that the nervous system with its high aerobic metabolic demands and limited capacity for re- pair is particularly susceptible. In addition to the study of diseases associated with mtDNA mutations, interest in recent years has also begun to focus on the role of mi- tochondria in a range of acquired degenerative diseases including Parkinson’s