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Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27(2):1564-6. doi: 10.3109/19401736.2014.953137. Epub 2014 Sep 4.

Mitochondrial tRNAThr 15891C>G mutation was not associated with Leber's hereditary optic neuropathy in Han Chinese patients.

Author information

1
a Department of Pathology , Second affiliated hospital of Zhejiang University , Hangzhou , China .
2
b Department of Cardiology , Xiaoshan First People's Hospital , Hangzhou , China .
3
c Department of Pharmacy , Hunan University of Traditional Chinese Medicine , Changsha , China , and.
4
d Central Laboratory , Hangzhou First People's Hospital , Hangzhou , China.

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.

KEYWORDS:

Association study; LHON; mt-tRNAThr mutation

PMID:
25186221
DOI:
10.3109/19401736.2014.953137
[Indexed for MEDLINE]

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