Peter Bradley, Falkenberg Maria
Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE405 30 Gothenburg, Sweden.
Genes (Basel). 2020 Apr 9;11(4):408. doi: 10.3390/genes11040408.
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.
哺乳动物线粒体含有一个环状基因组（mtDNA），该基因组编码氧化磷酸化机制的亚基。mtDNA的复制和维持由一组核编码因子完成，其中解旋酶是重要的一类。TWINKLE解旋酶是线粒体中的主要解旋酶，也是mtDNA复制所需的唯一解旋酶。TWINKLE基因突变会导致许多与线粒体功能障碍、神经退行性变和早衰相关的人类疾病。此外，还鉴定出了一些其他可能在线粒体中发挥作用的解旋酶。在这篇综述中，我们讨论了目前对TWINKLE结构和功能及其在mtDNA维持疾病中的作用的认识。我们还简要讨论了其他潜在的线粒体解旋酶，并推测了它们在线粒体中的作用。
