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A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.一名散发性线粒体脑病患者中发现一种新的异质性tRNAleu（CUN）线粒体DNA点突变，该突变在骨骼肌中快速分离，并提示了一种治疗方法。
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本文引用的文献

1
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.慢性进行性眼外肌麻痹：线粒体DNA的一种新的异质性tRNA（Leu（CUN））突变
J Neurol Sci. 2008 Sep 15;272(1-2):106-9. doi: 10.1016/j.jns.2008.05.005. Epub 2008 Jul 7.
2
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.一名面肩肱型肌营养不良表型患者中新型线粒体tRNA亮氨酸（CUN）转换及D4Z4部分缺失
Neuromuscul Disord. 2008 Mar;18(3):204-9. doi: 10.1016/j.nmd.2007.12.005. Epub 2008 Mar 14.
3
Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.新型致病性G12276A线粒体tRNALeu（CUN）突变与A185G D环多态性的组织依赖性共分离。
J Med Genet. 2004 Dec;41(12):e124. doi: 10.1136/jmg.2004.022566.
4
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.不同组织中线粒体DNA A3243G突变的负荷差异：对诊断的意义
Am J Med Genet A. 2004 Oct 1;130A(2):134-7. doi: 10.1002/ajmg.a.30220.
5
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.一名线粒体DNA发生G12315A突变的散发性患者出现线粒体肌病和眼肌麻痹。
Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x.
6
Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene.线粒体tRNA（亮氨酸（CUN））基因的肌肉限制性突变导致运动不耐受。
Ann Med. 2001 Oct;33(7):493-6. doi: 10.3109/07853890109002099.
7
Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria.用于可视化线粒体的光学成像技术（组织化学、免疫组织化学和原位杂交染色方法）。
Methods Cell Biol. 2001;65:311-32. doi: 10.1016/s0091-679x(01)65019-2.
8
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.一个大家庭中存在母系遗传的听力损失，其线粒体DNA的tRNA(Ser(UCN))基因发生了新的T7511C突变。
Neurology. 1999 Jun 10;52(9):1905-8. doi: 10.1212/wnl.52.9.1905.
9
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.一种新的线粒体DNA突变，其表现为随时间积累且局限于骨骼肌。
Am J Hum Genet. 1997 Feb;60(2):373-80.
10
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.一名散发性线粒体脑病患者中发现一种新的异质性tRNAleu（CUN）线粒体DNA点突变，该突变在骨骼肌中快速分离，并提示了一种治疗方法。
Hum Mol Genet. 1996 Nov;5(11):1835-40. doi: 10.1093/hmg/5.11.1835.

由于 mtDNA tRNA(Leu(CUN)) 基因突变导致的进行性缓慢脑神经病伴听力损失。

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

机构信息

Department of Neurology, Columbia University Medical Center, New York, NY, USA.

出版信息

J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.

DOI:10.1016/j.jns.2009.12.001
PMID:20022607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3891822/
Abstract

Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance.

摘要

线粒体 DNA（mtDNA）tRNA（Leu（UCN））基因的致病性突变总是伴随着骨骼肌病，伴有或不伴有慢性进行性眼外肌麻痹（CPEO）。我们报告了一位年轻女性，她携带有 tRNA（Leu（UCN））中的 m.12276G>A 异质突变，患有儿童期发病且进展缓慢的脑病，伴有共济失调、认知障碍和听力损失。即使没有母系遗传，在所有不常见的神经综合征中，都应进行 22 个线粒体 tRNA 基因的测序。