Title: Human mitochondrial DNA replication machinery and disease.
Authors: Young, Matthew J; Copeland, William C
Published In Curr Opin Genet Dev, (2016 06)
Abstract: The human mitochondrial genome is replicated by DNA polymerase γ in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS) such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. Here we review the current literature regarding human mtDNA replication and heritable disorders caused by genetic changes of the POLG, POLG2, Twinkle, RNASEH1, DNA2, and MGME1 genes.
PubMed ID: 27065468
MeSH Terms: Cell Respiration/genetics; DNA Helicases/genetics; DNA Polymerase gamma; DNA Replication/genetics*; DNA, Mitochondrial/genetics*; DNA-Directed DNA Polymerase/genetics; Exodeoxyribonucleases/genetics; Genome, Mitochondrial*; Humans; Mitochondrial Diseases/genetics*; Mitochondrial Diseases/pathology; Mitochondrial Proteins/genetics; Mutation; Ribonuclease H/genetics