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2016 ; 38
(ä): 52-62
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Human mitochondrial DNA replication machinery and disease
#MMPMID27065468
Young MJ
; Copeland WC
Curr Opin Genet Dev
2016[Jun]; 38
(ä): 52-62
PMID27065468
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The human mitochondrial genome is replicated by DNA polymerase ? 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.