• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

MERRF 和 Kearns-Sayre 重叠综合征是由于线粒体 DNA m.3291T>C 突变引起的。

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

机构信息

Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P&S 4-423, New York, New York 10032, USA.

出版信息

Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.

DOI:10.1002/mus.22149
PMID:21996807
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3197731/
Abstract

A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome.

摘要

一位 48 岁男性表现出肌阵挛性癫痫伴破碎红纤维（MERRF）综合征和 Kearns-Sayre 综合征（KSS）的复杂表型，包括进行性肌阵挛性癫痫、小脑性共济失调、听力损失、肌病性无力、眼肌麻痹、色素性视网膜炎、双束支传导阻滞和破碎红纤维。在肌肉中发现了 tRNA（Leu（UUR））基因中的 m.3291T>C 突变，异质性为 92%。该突变已在 MELAS、肌病和伴有认知障碍的耳聋中报道过。这是首例 MERRF/KSS 综合征的描述。

相似文献

1
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.MERRF 和 Kearns-Sayre 重叠综合征是由于线粒体 DNA m.3291T>C 突变引起的。
Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.
2
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.一名具有肌阵挛性癫痫伴破碎红纤维综合征（MERRF）和卡恩斯-塞尔综合征（Kearns-Sayre syndrome）特征的患者中发现一种新的线粒体tRNA（Leu（UUR））突变。
Neuromuscul Disord. 2003 May;13(4):334-40. doi: 10.1016/s0960-8966(02)00283-3.
3
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.由m.3291T>C突变引起的肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸血症和卒中样发作重叠综合征
Metab Brain Dis. 2014 Mar;29(1):139-44. doi: 10.1007/s11011-013-9464-5. Epub 2013 Dec 12.
4
Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production.线粒体肌病中线粒体DNA的表达以及参与ATP生成的核基因的协同表达。
J Biol Chem. 1993 Jun 5;268(16):12156-63.
5
MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions.由线粒体DNA m. A3243G突变和大规模线粒体DNA缺失导致的线粒体脑肌病伴乳酸血症和卒中样发作及凯-塞尔重叠综合征
eNeurologicalSci. 2016 Apr 25;4:15-18. doi: 10.1016/j.ensci.2016.04.006. eCollection 2016 Sep.
6
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.一个新的线粒体 T14709C 突变导致中国患者出现肌阵挛癫痫伴破碎红纤维综合征。
Chin Med J (Engl). 2018 Jul 5;131(13):1569-1574. doi: 10.4103/0366-6999.235120.
7
A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.一种与线粒体DNA 3243突变相关的肌阵挛性癫痫伴破碎红纤维/进行性眼外肌麻痹重叠综合征。
Neurology. 1996 May;46(5):1334-6. doi: 10.1212/wnl.46.5.1334.
8
Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers.教学神经影像：伴有破碎红纤维的肌阵挛癫痫的影像表型
Neurology. 2020 May 19;94(20):e2187-e2188. doi: 10.1212/WNL.0000000000009438. Epub 2020 Apr 23.
9
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.由m.8344A>G“MERRF”突变引起的伴有呼吸功能不全的远端肌无力。
Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.
10
Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA.线粒体脑肌病：神经病理学发现与线粒体DNA缺陷之间的相关性
J Neurol Sci. 1991 Mar;102(1):51-60. doi: 10.1016/0022-510x(91)90093-m.

引用本文的文献

1
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.线粒体共济失调：分子分类与临床异质性
Neurol Int. 2022 Apr 2;14(2):337-356. doi: 10.3390/neurolint14020028.
2
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.全外显子组测序在一名智力障碍、癫痫和痉挛性四肢瘫痪患者中发现的 MT-TL1 变异体。
Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1.
3
[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].[线粒体脑肌病、乳酸酸中毒和卒中样发作/肌阵挛性癫痫伴破碎红纤维/由线粒体DNA 8344A>G突变引起的 Leigh重叠综合征]
Beijing Da Xue Xue Bao Yi Xue Ban. 2020 Oct 18;52(5):851-855. doi: 10.19723/j.issn.1671-167X.2020.05.009.
4
Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions.致病性线粒体 DNA 突变：当前的检测工具和干预措施。
Genes (Basel). 2020 Feb 12;11(2):192. doi: 10.3390/genes11020192.
5
Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation.一名线粒体DNA A8344G突变青少年患者出现重叠性 Leigh 综合征/肌阵挛性癫痫伴破碎红纤维。
Front Neurol. 2018 Sep 13;9:724. doi: 10.3389/fneur.2018.00724. eCollection 2018.
6
MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions.由线粒体DNA m. A3243G突变和大规模线粒体DNA缺失导致的线粒体脑肌病伴乳酸血症和卒中样发作及凯-塞尔重叠综合征
eNeurologicalSci. 2016 Apr 25;4:15-18. doi: 10.1016/j.ensci.2016.04.006. eCollection 2016 Sep.
7
Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia.致编辑的信的回复：关于：由m.3291 T>C tRNA突变引起的MELAS扩展表型 E·凯兰德、C.A.鲁帕尔、阿苏里·N.普拉萨德、K.Y. Tay、A.唐尼和C.普拉萨德（1） 作者：医学博士、哲学博士约瑟夫·芬斯特勒 [1]、哲学博士辛达·扎鲁克-马赫朱卜 [2] [1] 维也纳鲁道夫基金会医院 [2] 突尼斯巴斯德研究所基因组学平台
Mol Genet Metab Rep. 2016 Jul 15;8:41-2. doi: 10.1016/j.ymgmr.2016.07.002. eCollection 2016 Sep.
8
Response to: Letter to the Editor regarding: The expanding phenotype of MELAS caused by the m.3291T > C tRNA mutation E. Kelland, C.A. Rupar, Asuri N. Prasad, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2].回复：致编辑的信，关于：由m.3291T>C tRNA突变引起的MELAS扩展表型，E. 凯兰德、C.A. 鲁帕尔、阿苏里·N. 普拉萨德、A. 唐尼和C. 普拉萨德（1），作者：医学博士、哲学博士约瑟夫·芬斯特勒[1]，哲学博士辛达·扎鲁克-马赫朱卜[2] 。
Mol Genet Metab Rep. 2016 Jun 1;7:96-7. doi: 10.1016/j.ymgmr.2016.05.001. eCollection 2016 Jun.
9
The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.由MT-TL1基因中m.3291T>C突变引起的线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）的扩展表型。
Mol Genet Metab Rep. 2016 Feb 22;6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar.
10
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.由m.3291T>C突变引起的肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸血症和卒中样发作重叠综合征
Metab Brain Dis. 2014 Mar;29(1):139-44. doi: 10.1007/s11011-013-9464-5. Epub 2013 Dec 12.

本文引用的文献

1
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.五例线粒体脑肌病患者新突变的鉴定
Biochim Biophys Acta. 2009 May;1787(5):491-501. doi: 10.1016/j.bbabio.2008.10.001. Epub 2008 Oct 15.
2
Detection of mutations in mtDNA.线粒体DNA突变的检测
Methods Cell Biol. 2007;80:437-63. doi: 10.1016/S0091-679X(06)80022-1.
3
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.突变型tRNA中摆动修饰缺陷与人类线粒体疾病临床特征之间的特定相关性。
Proc Natl Acad Sci U S A. 2005 May 17;102(20):7127-32. doi: 10.1073/pnas.0500563102. Epub 2005 May 3.
4
MITOMAP: a human mitochondrial genome database--2004 update.《人类线粒体基因组数据库——2004年更新》
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D611-3. doi: 10.1093/nar/gki079.
5
Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.某些与线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）相关的突变导致线粒体亮氨酰-tRNA（UUR）氨酰化作用降低。
FEBS Lett. 2004 Dec 3;578(1-2):135-9. doi: 10.1016/j.febslet.2004.11.004.
6
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.一名具有肌阵挛性癫痫伴破碎红纤维综合征（MERRF）和卡恩斯-塞尔综合征（Kearns-Sayre syndrome）特征的患者中发现一种新的线粒体tRNA（Leu（UUR））突变。
Neuromuscul Disord. 2003 May;13(4):334-40. doi: 10.1016/s0960-8966(02)00283-3.
7
Human mitochondrial DNA diseases.人类线粒体DNA疾病
Adv Drug Deliv Rev. 2001 Jul 2;49(1-2):27-43. doi: 10.1016/s0169-409x(01)00124-7.
8
Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.与线粒体DNA 3291T→C突变相关的神经肌肉综合征：第二例病例
Neuromuscul Disord. 2000 Aug;10(6):415-8. doi: 10.1016/s0960-8966(99)00115-7.
9
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects.线粒体疾病中的心脏受累。对17例有记录的线粒体DNA缺陷患者的研究。
Circulation. 1995 Feb 15;91(4):955-61. doi: 10.1161/01.cir.91.4.955.
10
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).一名患有线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）的患者，其线粒体tRNA（Leu（UUR））基因第3291位核苷酸对出现新的点突变。
Biochem Biophys Res Commun. 1994 Aug 15;202(3):1624-30. doi: 10.1006/bbrc.1994.2119.