黑质神经元中线粒体DNA缺失的性质。
Nature of mitochondrial DNA deletions in substantia nigra neurons.
作者信息
Reeve Amy K, Krishnan Kim J, Elson Joanna L, Morris Christopher M, Bender Andreas, Lightowlers Robert N, Turnbull Douglass M
机构信息
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
出版信息
Am J Hum Genet. 2008 Jan;82(1):228-35. doi: 10.1016/j.ajhg.2007.09.018.
Abstract
Mitochondrial DNA (mtDNA) deletions have been investigated in a number of neurodegenerative diseases. This study aimed to investigate the characteristics of mtDNA deletions found in single substantia nigra neurons from three patient groups: controls, Parkinson disease patients, and a patient with Parkinsonism due to multiple mtDNA deletions. We have identified 89 deletions from these neurons and examined the breakpoint characteristics of them. There was no difference in the types of mtDNA deletions detected in these neurons. These results suggest that the mechanism leading to the formation of these deletions in these three distinct groups could be the same.
摘要
线粒体DNA（mtDNA）缺失已在多种神经退行性疾病中得到研究。本研究旨在调查在三个患者组的单个黑质神经元中发现的mtDNA缺失的特征：对照组、帕金森病患者以及一名因多重mtDNA缺失导致帕金森综合征的患者。我们从这些神经元中鉴定出89个缺失，并检查了它们的断点特征。在这些神经元中检测到的mtDNA缺失类型没有差异。这些结果表明，导致这三个不同组中这些缺失形成的机制可能是相同的。
相似文献
1
Nature of mitochondrial DNA deletions in substantia nigra neurons.黑质神经元中线粒体DNA缺失的性质。
Am J Hum Genet. 2008 Jan;82(1):228-35. doi: 10.1016/j.ajhg.2007.09.018.
2
Mitochondrial DNA deletions/rearrangements in parkinson disease and related neurodegenerative disorders.帕金森病及相关神经退行性疾病中的线粒体DNA缺失/重排
J Neuropathol Exp Neurol. 2002 Jul;61(7):634-9. doi: 10.1093/jnen/61.7.634.
3
Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms.线粒体 DNA 缺失在多巴胺能神经元内的积累引发神经保护机制。
Brain. 2013 Aug;136(Pt 8):2369-78. doi: 10.1093/brain/awt196.
4
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.衰老和帕金森病患者黑质神经元中线粒体DNA缺失水平较高。
Nat Genet. 2006 May;38(5):515-7. doi: 10.1038/ng1769. Epub 2006 Apr 9.
5
Mitochondrial DNA deletions in mice in men: substantia nigra is much less affected in the mouse.小鼠和人类中的线粒体DNA缺失：黑质在小鼠中受影响程度小得多。
Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1159-62. doi: 10.1016/j.bbabio.2010.04.005. Epub 2010 Apr 11.
6
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease.帕金森病中黑质中线粒体 DNA 稳态的缺陷。
Nat Commun. 2016 Nov 22;7:13548. doi: 10.1038/ncomms13548.
7
Increased mitochondrial DNA deletions in substantia nigra dopamine neurons of the aged rat.老年大鼠黑质多巴胺能神经元中线粒体DNA缺失增加。
Curr Aging Sci. 2014;7(3):155-60. doi: 10.2174/1874609808666150122150850.
8
Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression.突变 Twinkle 增加多巴胺能神经退行性变、线粒体 DNA 缺失并调节 Parkin 表达。
Hum Mol Genet. 2012 Dec 1;21(23):5147-58. doi: 10.1093/hmg/dds365. Epub 2012 Sep 4.
9
The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons.老年黑质神经元中克隆性扩增的线粒体DNA点突变丰度较低。
Aging Cell. 2009 Aug;8(4):496-8. doi: 10.1111/j.1474-9726.2009.00492.x. Epub 2009 May 31.
10
Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease.在帕金森病中对神经元线粒体缺失进行超深度图谱绘制。
Neurobiol Aging. 2018 Mar;63:120-127. doi: 10.1016/j.neurobiolaging.2017.10.024. Epub 2017 Dec 8.
引用本文的文献
1
Mitochondria-targeted oligomeric α-synuclein induces TOM40 degradation and mitochondrial dysfunction in Parkinson's disease and parkinsonism-dementia of Guam.线粒体靶向的寡聚α-突触核蛋白在帕金森病和关岛帕金森病痴呆中诱导TOM40降解和线粒体功能障碍。
Cell Death Dis. 2024 Dec 18;15(12):914. doi: 10.1038/s41419-024-07258-5.
2
Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.人类线粒体 DNA 复制和缺失形成的机制和病理学。
Biochem J. 2024 Jun 5;481(11):683-715. doi: 10.1042/BCJ20230262.
3
Mitochondria-Targeted Oligomeric α-Synuclein Induces TOM40 Degradation and Mitochondrial Dysfunction in Parkinson's Disease and Parkinsonism-Dementia of Guam.线粒体靶向的寡聚α-突触核蛋白在帕金森病和关岛帕金森痴呆综合征中诱导TOM40降解及线粒体功能障碍。
Res Sq. 2024 Feb 21:rs.3.rs-3970470. doi: 10.21203/rs.3.rs-3970470/v1.
4
Common mitochondrial deletions in RNA-Seq: evaluation of bulk, single-cell, and spatial transcriptomic datasets.RNA-Seq 中常见的线粒体缺失：对批量、单细胞和空间转录组数据集的评估。
Commun Biol. 2024 Feb 17;7(1):200. doi: 10.1038/s42003-024-05877-4.
5
Mitochondrial dysfunction in neurodegenerative disorders: Potential therapeutic application of mitochondrial transfer to central nervous system-residing cells.神经退行性疾病中线粒体功能障碍：线粒体向中枢神经系统驻留细胞转移的潜在治疗应用。
J Transl Med. 2023 Sep 9;21(1):613. doi: 10.1186/s12967-023-04493-w.
6
Parkinson's disease neurons exhibit alterations in mitochondrial quality control proteins.帕金森病神经元表现出线粒体质量控制蛋白的改变。
NPJ Parkinsons Dis. 2023 Aug 8;9(1):120. doi: 10.1038/s41531-023-00564-3.
7
The Impact of microRNAs on Mitochondrial Function and Immunity: Relevance to Parkinson's Disease.微小RNA对线粒体功能和免疫的影响：与帕金森病的相关性
Biomedicines. 2023 May 3;11(5):1349. doi: 10.3390/biomedicines11051349.
8
Fish Models for Exploring Mitochondrial Dysfunction Affecting Neurodegenerative Disorders.鱼类模型在探索影响神经退行性疾病的线粒体功能障碍中的应用。
Int J Mol Sci. 2023 Apr 11;24(8):7079. doi: 10.3390/ijms24087079.
9
Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.对死后人脑中线粒体 DNA 改变的综合总结：系统评价。
EBioMedicine. 2022 Feb;76:103815. doi: 10.1016/j.ebiom.2022.103815. Epub 2022 Jan 24.
10
Mitochondrial dysfunction in adult midbrain dopamine neurons triggers an early immune response.成年中脑多巴胺神经元中线粒体功能障碍引发早期免疫反应。
PLoS Genet. 2021 Sep 27;17(9):e1009822. doi: 10.1371/journal.pgen.1009822. eCollection 2021 Sep.
本文引用的文献
1
Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand.脊椎动物线粒体DNA的复制需要在整个滞后链中短暂掺入核糖核苷酸。
EMBO J. 2006 Nov 15;25(22):5358-71. doi: 10.1038/sj.emboj.7601392. Epub 2006 Oct 26.
2
Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers.线粒体DNA缺失突变在衰老的人类骨骼肌纤维细胞内累积至有害水平。
Am J Hum Genet. 2006 Sep;79(3):469-80. doi: 10.1086/507132. Epub 2006 Jul 7.
3
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.衰老和帕金森病患者黑质神经元中线粒体DNA缺失水平较高。
Nat Genet. 2006 May;38(5):515-7. doi: 10.1038/ng1769. Epub 2006 Apr 9.
4
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.线粒体DNA缺失在老年人类黑质神经元中大量存在并导致功能受损。
Nat Genet. 2006 May;38(5):518-20. doi: 10.1038/ng1778. Epub 2006 Apr 9.
5
Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans.小鼠肌肉线粒体DNA的双链断裂会促进产生与人类多种线粒体DNA缺失类似的大片段缺失。
Hum Mol Genet. 2005 Apr 1;14(7):893-902. doi: 10.1093/hmg/ddi082. Epub 2005 Feb 9.
6
Two direct repeats cause most human mtDNA deletions.两个直接重复序列导致了大多数人类线粒体DNA缺失。
Trends Genet. 2004 Sep;20(9):393-8. doi: 10.1016/j.tig.2004.07.003.
7
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.Twinkle和POLG缺陷会增强线粒体DNA控制区域中与年龄相关的突变积累。
Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. doi: 10.1093/nar/gkh634. Print 2004.
8
Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD.阿尔茨海默病中存在线粒体酶缺陷的海马神经元和脉络膜细胞。
Neurology. 2001 Jul 24;57(2):260-4. doi: 10.1212/wnl.57.2.260.
9
Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.哺乳动物线粒体DNA的前导链与后随链耦合合成
Cell. 2000 Mar 3;100(5):515-24. doi: 10.1016/s0092-8674(00)80688-1.
10
Cytochrome c oxidase defects of the human substantia nigra in normal aging.正常衰老过程中人类黑质的细胞色素c氧化酶缺陷
Neurobiol Aging. 1996 Nov-Dec;17(6):843-8. doi: 10.1016/s0197-4580(96)00168-6.
Zotero 插件