Depletion of mtDNA: syndromes and genes.

TitleDepletion of mtDNA: syndromes and genes.
Publication TypeJournal Article
Year of Publication2007
AuthorsAlberio, S, Mineri, R, Tiranti, V, Zeviani, M
Date Published2007 Feb-Apr
KeywordsDNA Polymerase gamma, DNA, Mitochondrial, DNA-Directed DNA Polymerase, Humans, Membrane Proteins, Mitochondria, Mitochondrial Diseases, Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Phosphotransferases (Alcohol Group Acceptor), Succinate-CoA Ligases, Thymidine Kinase

Maintenance of mitochondrial DNA (mtDNA) requires the concerted activity of several nuclear-encoded factors that participate in its replication, being part of the mitochondrial replisome or ensuring the balanced supply of dNTPs to mitochondria. In the past decade, a growing number of syndromes associated with dysfunction due to tissue-specific depletion of mtDNA (MDS) have been reported. This article reviews the current knowledge of the genes responsible for these disorders, the impact of different mutations in the epidemiology of MDS and their role in the pathogenic mechanisms underlying the different clinical presentations.

Alternate JournalMitochondrion
Citation Key10.1016/j.mito.2006.11.010
PubMed ID17280874
Grant ListGGP030039 / / Telethon / Italy