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TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.

Review article
Authors Bradley Peter
Maria Falkenberg
Published in Genes
Volume 11
Issue 4
ISSN 2073-4425
Publication year 2020
Published at Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Language en
Subject categories Molecular biology, Genetics, Structural Biology


Mammalian mitochondria contain a circular genome (mtDNA) which encodes subunits of the oxidative phosphorylation machinery. The replication and maintenance of mtDNA is carried out by a set of nuclear-encoded factors-of which, helicases form an important group. The TWINKLE helicase is the main helicase in mitochondria and is the only helicase required for mtDNA replication. Mutations in TWINKLE cause a number of human disorders associated with mitochondrial dysfunction, neurodegeneration and premature ageing. In addition, a number of other helicases with a putative role in mitochondria have been identified. In this review, we discuss our current knowledge of TWINKLE structure and function and its role in diseases of mtDNA maintenance. We also briefly discuss other potential mitochondrial helicases and postulate on their role(s) in mitochondria.

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Utskriftsdatum: 2020-08-08