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Title Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families
Creator/Author Zhou Xiangtian [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)]|[Zhejiang Provincial Key Lab. of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] ; Wei Qiping [Dept. of Ophthalmology, Dongfang Hospital, Beijing Univ. of Chinese Medicine and Pharmacology, Beijing 100078 (China)] ; Yang Li [Div. of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States)] ; Tong Yi [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)]|[First Affiliated Hospital, Fujian Medical Univ., Fuzhou, Fujian 350005 (China)] ; Zhao Fuxin [Zhejiang Provincial Key Lab. of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] ; Lu Chunjie [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] ; Qian Yaping [Div. of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States)] ; Sun Yanghong [Dept. of Ophthalmology, Dongfang Hospital, Beijing Univ. of Chinese Medicine and Pharmacology, Beijing 100078 (China)] ; Lu Fan [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] ; Qu Jia [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)]|[Zhejiang Provincial Key Lab. of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)]. E-mail: jqu@wzmc.net ; Guan Minxin [Zhejiang Provincial Key Lab. of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)]|[Div. of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States)]|[Dept. of Pediatrics, Univ. of Cincinnati College of Medicine, Cincinnati, OH 45229 (United States)]. E-mail: min-xin.guan@cchmc.org
Publication Date2006 Feb 03
OSTI IdentifierOSTI ID: 20798775
Other Number(s)Journal ID: ISSN 0006-291X; BBRCA9; TRN: US06R0190100864
Resource TypeJournal Article
Resource RelationJournal: Biochemical and Biophysical Research Communications; Journal Volume: 340; Journal Issue: 1; Other Information: DOI: 10.1016/j.bbrc.2005.11.150; PII: S0006-291X(05)02687-2; Copyright (c) 2005 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved; Country of input: International Atomic Energy Agency (IAEA)
Subject60 APPLIED LIFE SCIENCES; DNA; EVALUATION; EYES; GENES; MUTATIONS; PATHOGENESIS; SENSE ORGANS DISEASES; STRUCTURAL CHEMICAL ANALYSIS
Description/Abstract We report here the clinical, genetic, and molecular characterization of five Chinese families with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical ND4 G11696A mutation associated with LHON. Indeed, this mutation is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families. In fact, the occurrence of the G11696A mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. Furthermore, the N405D in the ND5 and G5820A in the tRNA{sup Cys}, showing high evolutional conservation, may contribute to the phenotypic expression of G11696A mutation in the WZ10 pedigree. However, there was the absence of functionally significant mtDNA mutations in other four Chinese pedigrees carrying the G11696A mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees.
Country of PublicationUnited States
LanguageEnglish
FormatSize: page(s) 69-75
System Entry Date2006 Dec 22

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