MFN2突变导致线粒体DNA代偿性增殖。 - Suppr

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

作者信息

Sitarz Kamil S, Yu-Wai-Man Patrick, Pyle Angela, Stewart Joanna D, Rautenstrauss Bernd, Seeman Pavel, Reilly Mary M, Horvath Rita, Chinnery Patrick F

出版信息

Brain. 2012 Aug;135(Pt 8):e219, 1-3; author reply e220, 1-3. doi: 10.1093/brain/aws049. Epub 2012 Apr 4.

DOI:10.1093/brain/aws049

PMID:22492563

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3407419/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eef8/3407419/6259c1c8f294/aws049f1.jpg

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本文引用的文献

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.MFN2 基因负责线粒体 DNA 不稳定和视神经萎缩“加号”表型。

Brain. 2012 Jan;135(Pt 1):23-34. doi: 10.1093/brain/awr323. Epub 2011 Dec 20.

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.OPA1 将人类线粒体基因组维持与 mtDNA 复制和分布联系起来。

Genome Res. 2011 Jan;21(1):12-20. doi: 10.1101/gr.108696.110. Epub 2010 Oct 25.

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.OPA1 突变导致细胞色素 c 氧化酶缺乏，原因是野生型 mtDNA 分子丢失。

Hum Mol Genet. 2010 Aug 1;19(15):3043-52. doi: 10.1093/hmg/ddq209. Epub 2010 May 18.

Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations.线粒体融合对于骨骼肌中线粒体 DNA 的稳定性和对线粒体 DNA 突变的耐受性是必需的。

Cell. 2010 Apr 16;141(2):280-9. doi: 10.1016/j.cell.2010.02.026.

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis.循环单个核细胞线粒体 DNA 含量在人类脓毒症中的下降。

Intensive Care Med. 2010 Jun;36(6):956-62. doi: 10.1007/s00134-010-1823-7. Epub 2010 Mar 12.

Multi-system neurological disease is common in patients with OPA1 mutations.OPA1 突变患者常出现多系统神经病变。

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Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.野生型线粒体DNA的正常水平可维持两种致病性线粒体DNA突变的细胞色素c氧化酶活性，但不能维持m.3243A→G突变的细胞色素c氧化酶活性。

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Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.线粒体肌病中的细胞凋亡与线粒体增殖有关。

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MFN2 mutations cause compensatory mitochondrial DNA proliferation.

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