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The human mitochondrial replication fork in health and disease.

Review article
Authors Sjoerd Wanrooij
Maria Falkenberg
Published in Biochimica et biophysica acta
ISSN 0006-3002
Publication year 2010
Published at Institute of Biomedicine
Language en
Subject categories Chemistry


Mitochondria are organelles whose main function is to generate power by oxidative phosphorylation. Some of the essential genes required for this energy production are encoded by the mitochondrial genome, a small circular double stranded DNA molecule. Human mtDNA is replicated by a specialized machinery distinct from the nuclear replisome. Defects in the mitochondrial replication machinery can lead to loss of genetic information by deletion and/or depletion of the mtDNA, which subsequently may cause disturbed oxidative phosphorylation and neuromuscular symptoms in patients. We discuss here the different components of the mitochondrial replication machinery and their role in disease. We also review the mode of mammalian mtDNA replication.

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