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伴有m.3243A>G突变的迟发型线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及其与动脉瘤形成的关联

Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.

作者信息

Zhu Kun, Li Shuang, Chen Huan, Wang Yao, Yu Miao, Wang Hongyan, Zhao Weijie, Cao Yunpeng

机构信息

Department of Neurology, First Affiliated Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, Liaoning, 110001, China.

The 96th Class, 7-Year Program, China Medical University, No.77 Puhe Road, Shenyang North New Area, Shenyang, Liaoning, 110122, China.

出版信息

Metab Brain Dis. 2017 Aug;32(4):1069-1072. doi: 10.1007/s11011-017-9989-0. Epub 2017 Mar 21.

DOI:10.1007/s11011-017-9989-0
PMID:28321601
Abstract

We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. We recommended regular angiographic examination for patients with MELAS.

摘要

我们报告了一名53岁患有迟发性线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）并伴有动脉瘤和大血管扩张的患者。大多数研究都集中在导致卒中样发作的微血管病上。我们报告一例病例，以描述大血管病变在临床考量中的情况以及动脉瘤形成的可能机制。我们建议对MELAS患者进行定期血管造影检查。

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Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.伴有m.3243A>G突变的迟发型线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及其与动脉瘤形成的关联
Metab Brain Dis. 2017 Aug;32(4):1069-1072. doi: 10.1007/s11011-017-9989-0. Epub 2017 Mar 21.
2
The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.MELAS 突变 m.3243A>G 通过 miRNA 失调促进胎儿心脏基因的重新激活和上皮-间充质转化样程序。
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MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.MERRF/MELAS 重叠综合征：线粒体 tRNA 基因的双重致病性突变。
J Med Genet. 2010 Oct;47(10):659-64. doi: 10.1136/jmg.2009.072058. Epub 2010 Jul 7.
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Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.与 m.3243A>G MTTL1 突变相关的线粒体脑肌病的神经影像学特征。
J Neurol. 2013 Apr;260(4):1071-80. doi: 10.1007/s00415-012-6763-4. Epub 2012 Nov 30.
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Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).线粒体脑肌病、乳酸酸中毒和卒中样发作综合征（MELAS）的一个扩展家系中不典型症状的家族性复发。
J Pediatr. 1994 Nov;125(5 Pt 1):758-61. doi: 10.1016/s0022-3476(94)70073-7.
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A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease.一种导致亚急性痴呆、酷似克雅氏病的线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）线粒体DNA突变。
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Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective.MT-TL1 基因 m.3243A>G 的检测率及表型谱：分子诊断实验室视角。
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Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing.家族性颅内动脉瘤不仅需要全外显子组测序，还需要线粒体DNA测序。
Korean J Radiol. 2022 May;23(5):566-567. doi: 10.3348/kjr.2022.0029.
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Response to "Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing".

本文引用的文献

1
Dermal γδ T-Cells Can Be Activated by Mitochondrial Damage-Associated Molecular Patterns.皮肤γδ T细胞可被线粒体损伤相关分子模式激活。
PLoS One. 2016 Jul 12;11(7):e0158993. doi: 10.1371/journal.pone.0158993. eCollection 2016.
2
Altered PPARγ Coactivator-1 Alpha Expression in Abdominal Aortic Aneurysm: Possible Effects on Mitochondrial Biogenesis.腹主动脉瘤中PPARγ辅激活因子-1α表达的改变：对线粒体生物合成的潜在影响
J Vasc Res. 2016;53(1-2):17-26. doi: 10.1159/000446653. Epub 2016 Jun 25.
3
Mitochondrial vasculopathy.线粒体血管病
对《家族性颅内动脉瘤不仅需要全外显子组测序，还需要线粒体DNA测序》的回应
Korean J Radiol. 2022 May;23(5):568-569. doi: 10.3348/kjr.2022.0084.
4
Rare Phenotypic Manifestations of MELAS.线粒体脑肌病伴乳酸血症和卒中样发作的罕见表型表现
Yonsei Med J. 2020 Oct;61(10):904-906. doi: 10.3349/ymj.2020.61.10.904.
5
Investigation of the relationship between non-ketotic hyperglycemia and hemichorea-hemiballism: A case report.非酮症高血糖与偏侧舞蹈症-偏侧投掷症关系的调查：一例报告
Medicine (Baltimore). 2019 Jul;98(28):e16255. doi: 10.1097/MD.0000000000016255.
6
MELAS and macroangiopathy: A case report and literature review.线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）与大血管病变：一例病例报告及文献综述
Medicine (Baltimore). 2018 Dec;97(52):e13866. doi: 10.1097/MD.0000000000013866.
7
Reversible Dilation of Cerebral Macrovascular Changes in MELAS Episodes.MELAS 发作时大脑大血管变化的可逆性扩张。
Clin Neuroradiol. 2019 Jun;29(2):321-329. doi: 10.1007/s00062-018-0662-8. Epub 2018 Feb 20.
8
Macroangiopathy is a typical phenotypic manifestation of MELAS.大血管病变是线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）的典型表型表现。
Metab Brain Dis. 2017 Aug;32(4):977-979. doi: 10.1007/s11011-017-0020-6. Epub 2017 May 2.
World J Cardiol. 2016 May 26;8(5):333-9. doi: 10.4330/wjc.v8.i5.333.
4
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征患儿一氧化氮生成受损及补充精氨酸和瓜氨酸的影响
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Association between polymorphisms in the interleukin-10 gene and risk of abdominal aortic aneurysm.白细胞介素-10基因多态性与腹主动脉瘤风险之间的关联。
Genet Mol Res. 2015 Dec 21;14(4):17599-604. doi: 10.4238/2015.December.21.32.
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Harnessing the Power of Integrated Mitochondrial Biology and Physiology: A Special Report on the NHLBI Mitochondria in Heart Diseases Initiative.利用线粒体综合生物学与生理学的力量：美国国立心、肺、血液研究所心脏病倡议中关于线粒体的特别报告
Circ Res. 2015 Jul 17;117(3):234-8. doi: 10.1161/CIRCRESAHA.117.306693.
7
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.线粒体脑肌病伴乳酸血症和卒中样发作综合征：临床表现、发病机制及治疗选择
Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15.
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Oxidative stress induced mitochondrial protein kinase A mediates cytochrome c oxidase dysfunction.氧化应激诱导的线粒体蛋白激酶A介导细胞色素c氧化酶功能障碍。
PLoS One. 2013 Oct 10;8(10):e77129. doi: 10.1371/journal.pone.0077129. eCollection 2013.