Abstract |
Mutations in mitochondrial DNA ( mtDNA) were the most important causes of Leber's hereditary optic neuropathy (LHON). To date, approximately 25 LHON-associated mtDNA mutations have been identified in various ethnic populations. Three primary mutations, the 3460G > A, 11778G > A and 14484T > C, in genes encoding the subunits of respiratory chain complex I, were the most common LHON-associated mtDNA mutations. Moreover, secondary mutations in mt- tRNA genes have been reported increasingly to be associated with LHON, simply due to the high mutation rates of mt-tRNAs. There is a lack of functional analysis and a poor genetic evaluation of a certain mt- tRNA mutation, which failed to meet the classic pathogenicity scoring system. As a result, how to classify a pathogenic mutation in mt- tRNA gene became important for both geneticist and clinician to diagnosis the LHON or the suspicious of LHON. In this study, we reassessed the role of a point mutation in mt- tRNA(Thr) gene which had been reported to be a mutation associated with LHON, the pathogenicity of this mutation has been discussed in this context.
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Authors | Zhaochang Jiang, Jinfang Yu, Bohou Xia, Guangchao Zhuo |
Journal | Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis
(Mitochondrial DNA A DNA Mapp Seq Anal)
Vol. 27
Issue 2
Pg. 1564-6
( 2016)
ISSN: 2470-1408 [Electronic] England |
PMID | 25186221
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- RNA, Transfer, Thr
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Topics |
- Base Sequence
- China
- Conserved Sequence
- DNA, Mitochondrial
(chemistry)
- Humans
- Mutation
- Nucleic Acid Conformation
- Optic Atrophy, Hereditary, Leber
(genetics)
- RNA, Transfer, Thr
(chemistry, genetics)
- Sequence Analysis, DNA
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