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.
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。
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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
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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。
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10
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