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A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

作者信息

Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J

出版信息

Am J Hum Genet. 1994 Jul;55(1):203-6.

PMID:8023847
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1918230/
Abstract
摘要

相似文献

1
A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.一个异质性Leber遗传性视神经病变（LHON）家系：11778突变的组织分布与传递
Am J Hum Genet. 1994 Jul;55(1):203-6.
2
Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy.Leber遗传性视神经病变中线粒体DNA细胞间异质性的单细胞分析
Am J Hum Genet. 1994 Jul;55(1):206-9.
3
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.线粒体ND6基因是导致Leber遗传性视神经病变的突变热点。
Brain. 2001 Jan;124(Pt 1):209-18. doi: 10.1093/brain/124.1.209.
4
Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.Leber遗传性视神经病变患者中ND6基因的突变分析。
Biochem Biophys Res Commun. 1997 May 19;234(2):511-5. doi: 10.1006/bbrc.1997.6660.
5
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.与Leber遗传性视神经病变相关的线粒体编码ND4亚基的功能改变。
FEBS Lett. 1994 Oct 3;352(3):375-9. doi: 10.1016/0014-5793(94)00971-6.
6
Leber hereditary optic neuropathy.
Ophthalmology. 1996 Feb;103(2):201-2. doi: 10.1016/s0161-6420(96)30718-5.
7
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.ND5基因中13513位的线粒体DNA G13513A转换与Leber遗传性视神经病变（LHON）/线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）重叠综合征相关，可能是MELAS的常见病因。
Ann Neurol. 1999 Dec;46(6):916-9. doi: 10.1002/1531-8249(199912)46:6<916::aid-ana16>3.0.co;2-r.
8
De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy.同卵双胞胎中与Leber遗传性视神经病变不一致的新发线粒体DNA 14484突变。
Neurology. 1997 Oct;49(4):1136-8. doi: 10.1212/wnl.49.4.1136.
9
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?Leber遗传性视神经病变：异质性是否会影响线粒体DNA G11778A突变的遗传和表达？
Am J Med Genet. 2001 Jan 22;98(3):235-43. doi: 10.1002/1096-8628(20010122)98:3<235::aid-ajmg1086>3.0.co;2-o.
10
Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与Leber遗传性视神经病变相关的3460碱基对线粒体DNA突变的功能后果。
J Neurol Sci. 1999 May 1;165(1):10-7. doi: 10.1016/s0022-510x(99)00088-x.

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Mitochondrially Targeted Gene Therapy Rescues Visual Loss in a Mouse Model of Leber's Hereditary Optic Neuropathy.线粒体靶向基因治疗挽救 Leber 遗传性视神经病变小鼠模型的视力丧失。
Int J Mol Sci. 2023 Dec 2;24(23):17068. doi: 10.3390/ijms242317068.
2
Clinical Profile of Patients with Leber Hereditary Optic Neuropathy (LHON): An Ambispective Study of North Indian Cohorts.Leber遗传性视神经病变（LHON）患者的临床概况：一项对北印度队列的双向性研究
Ann Indian Acad Neurol. 2022 Oct;25(Suppl 2):S65-S69. doi: 10.4103/aian.aian_532_22. Epub 2022 Oct 19.
3
Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.Leber 遗传性视神经病变外显率的候选修饰基因。
Int J Mol Sci. 2022 Oct 6;23(19):11891. doi: 10.3390/ijms231911891.
4
The Natural History of Leber's Hereditary Optic Neuropathy in an Irish Population and Assessment for Prognostic Biomarkers.爱尔兰人群中Leber遗传性视神经病变的自然病史及预后生物标志物评估
Neuroophthalmology. 2022 Mar 2;46(3):159-170. doi: 10.1080/01658107.2022.2032761. eCollection 2022.
5
Mitochondrial disorders and the eye.线粒体疾病与眼睛
Eye Brain. 2011 Sep 26;3:29-47. doi: 10.2147/EB.S16192. eCollection 2011.
6
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.线粒体DNA序列特征调节遗传瓶颈的大小。
Hum Mol Genet. 2016 Mar 1;25(5):1031-41. doi: 10.1093/hmg/ddv626. Epub 2016 Jan 5.
7
Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice.小鼠中突变人类线粒体DNA的受精卵注射和种系转移的后果。
Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):E5689-98. doi: 10.1073/pnas.1506129112. Epub 2015 Oct 5.
8
Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?预防致病性线粒体 DNA 突变的传播：我们能否从种系基因转移中获得长期获益？
Hum Reprod. 2013 Mar;28(3):554-9. doi: 10.1093/humrep/des439. Epub 2013 Jan 7.
9
Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.莱伯遗传性视神经病变——基因治疗：从实验室到临床应用
J Ophthalmol. 2011;2011:179412. doi: 10.1155/2011/179412. Epub 2010 Dec 26.
10
Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.先前对线粒体 DNA 突变水平方差的估计并未考虑抽样误差：比较小鼠和人类的 mtDNA 遗传瓶颈。
Am J Hum Genet. 2010 Apr 9;86(4):540-50. doi: 10.1016/j.ajhg.2010.02.023. Epub 2010 Apr 1.

本文引用的文献

1
Noninvasive diagnosis of the MELAS syndrome from blood DNA.基于血液DNA的线粒体脑肌病伴乳酸血症和卒中样发作综合征的无创诊断
Ann Neurol. 1993 Jul;34(1):116. doi: 10.1002/ana.410340124.
2
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.线粒体DNA转运RNA（赖氨酸）A→G（8344）突变与肌阵挛性癫痫伴破碎红纤维综合征（MERRF）。临床表型与突变型线粒体DNA比例的关系。
Brain. 1993 Jun;116 ( Pt 3):617-32. doi: 10.1093/brain/116.3.617.
3
Leber's hereditary optic neuropathy. New genetic considerations.莱伯遗传性视神经病变。新的遗传学考量。
Arch Neurol. 1993 May;50(5):540-8. doi: 10.1001/archneur.1993.00540050082021.
4
Heteroplasmy in Leber's hereditary optic neuropathy.
Arch Ophthalmol. 1993 Nov;111(11):1486-90. doi: 10.1001/archopht.1993.01090110052022.
5
The clinical findings in Leber's hereditary optic neuroretinopathy. Leber's disease.莱伯遗传性视神经视网膜病变的临床发现。莱伯病。
Trans Ophthalmol Soc U K (1962). 1985;104 ( Pt 8):845-52.
6
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.Leber遗传性视神经病变中的遗传异质性和线粒体DNA异质性
J Med Genet. 1989 Dec;26(12):739-43. doi: 10.1136/jmg.26.12.739.
7
Variable genotype of Leber's hereditary optic neuropathy patients.
Am J Ophthalmol. 1990 Jun 15;109(6):625-31. doi: 10.1016/s0002-9394(14)72429-8.
8
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.伴有11778突变的Leber遗传性视神经病变家系的临床特征
Am J Ophthalmol. 1991 Jun 15;111(6):750-62. doi: 10.1016/s0002-9394(14)76784-4.
9
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.Leber遗传性视神经病变：线粒体ND1基因受累及基因内抑制突变的证据。
Am J Hum Genet. 1991 May;48(5):935-42.
10
Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.线粒体基因组在伴有Leber遗传性视神经视网膜病变的异质性谱系中的分离
Am J Hum Genet. 1990 Jul;47(1):95-100.