Mitochondrial disorders.

TitleMitochondrial disorders.
Publication TypeJournal Article
Year of Publication2003
AuthorsZeviani, M, Carelli, V
JournalCurr Opin Neurol
Volume16
Issue5
Pagination585-94
Date Published2003 Oct
ISSN1350-7540
KeywordsAnimals, Antioxidants, Coenzymes, Cytoprotection, DNA, Mitochondrial, Genetic Therapy, Humans, Mitochondria, Mitochondrial Diseases, Mutation, Oxidative Phosphorylation, Ubiquinone
Abstract

PURPOSE OF REVIEW: We present here a review of the most recent and relevant contributions on the genetic, biochemical and clinical aspects of mitochondrial biogenesis and disease. The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research.RECENT FINDINGS: Some of the basic notions on mitochondrial genetics are being challenged by new data on fundamental biological functions such as mitochondrial DNA replication, transcription and the nuclear control of mitochondrial DNA variations, with important implications in the understanding of the molecular mechanisms of disease. The rapidly increasing identification of nuclear genes responsible for oxidative phosphorylation-related disorders, has greatly broadened the concept of mitochondrial disease.SUMMARY: The development of animal models and the use of multiple strategies are all accelerating our understanding of the pathogenesis in mitochondrial disorders, by integrating in-vivo, in-vitro and in-silico approaches. Finally, some interesting progress has recently been made on gene therapy, giving hope for the future treatment of these conditions.

DOI10.1097/01.wco.0000093101.34793.c8
Alternate JournalCurr. Opin. Neurol.
Citation Key10.1097/01.wco.0000093101.34793.c8
PubMed ID14501842
Grant List1180 / / Telethon / Italy