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- Title
Defects of Mitochondrial DNA Replication.
- Authors
Copeland, William C.
- Abstract
Mitochondrial DNA is replicated by DNA polymerase γ in concert with accessory proteins such as the mitochondrial DNA helicase, single-stranded DNA binding protein, topoisomerase, and initiating factors. Defects in mitochondrial DNA replication or nucleotide metabolism can cause mitochondrial genetic diseases due to mitochondrial DNA deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These genetic diseases include mitochondrial DNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mitochondrial DNA deletion disorders, such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. This review focuses on our current knowledge of genetic defects of mitochondrial DNA replication (POLG, POLG2, C10orf2, and MGME1) that cause instability of mitochondrial DNA and mitochondrial disease.
- Subjects
MITOCHONDRIAL DNA; DNA replication; NUCLEOTIDE metabolism; GENETIC disorders; EYE paralysis; CHRONIC progressive external opthalmoplegia; NEUROLOGICAL disorders
- Publication
Journal of Child Neurology, 2014, Vol 29, Issue 9, p1216
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073814537380