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Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

PURPOSE: Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mut...

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Autores principales: Mishra, Anushree, Devi, Saranya, Saxena, Rohit, Gupta, Neerja, Kabra, Madhulika, Chowdhury, Madhumita Roy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700584/
https://www.ncbi.nlm.nih.gov/pubmed/29133642
http://dx.doi.org/10.4103/ijo.IJO_380_17
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author Mishra, Anushree
Devi, Saranya
Saxena, Rohit
Gupta, Neerja
Kabra, Madhulika
Chowdhury, Madhumita Roy
author_facet Mishra, Anushree
Devi, Saranya
Saxena, Rohit
Gupta, Neerja
Kabra, Madhulika
Chowdhury, Madhumita Roy
author_sort Mishra, Anushree
collection PubMed
description PURPOSE: Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mutations differs in different populations. The purpose of this study is to observe the frequency of three common primary mutations in the North Indian population. METHODS: Forty LHON patients within the age group of 10–50 years underwent molecular testing for primary mutations. For two patients, testing for mother and other siblings was also carried out, using bidirectional sequencing. RESULTS: A total of 11 out of 40 (27.5%) patients were found to be carrying m.G11778A mutation. Siblings of two probands were also positive for the same mutation. In one family, two primary mutations (m.G11778A and m.T14484C) were found in the proband and in the mother as well. CONCLUSION: In this study, 27.5% mutation was detected in North Indian LHON families. These results suggest that m.G11778A mutation is more frequent in this population. The results of the present study are compatible with studies of an Asian population and Northern European population.
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spelling pubmed-57005842017-12-01 Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population Mishra, Anushree Devi, Saranya Saxena, Rohit Gupta, Neerja Kabra, Madhulika Chowdhury, Madhumita Roy Indian J Ophthalmol Original Article PURPOSE: Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mutations differs in different populations. The purpose of this study is to observe the frequency of three common primary mutations in the North Indian population. METHODS: Forty LHON patients within the age group of 10–50 years underwent molecular testing for primary mutations. For two patients, testing for mother and other siblings was also carried out, using bidirectional sequencing. RESULTS: A total of 11 out of 40 (27.5%) patients were found to be carrying m.G11778A mutation. Siblings of two probands were also positive for the same mutation. In one family, two primary mutations (m.G11778A and m.T14484C) were found in the proband and in the mother as well. CONCLUSION: In this study, 27.5% mutation was detected in North Indian LHON families. These results suggest that m.G11778A mutation is more frequent in this population. The results of the present study are compatible with studies of an Asian population and Northern European population. Medknow Publications & Media Pvt Ltd 2017-11 /pmc/articles/PMC5700584/ /pubmed/29133642 http://dx.doi.org/10.4103/ijo.IJO_380_17 Text en Copyright: © 2017 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Original Article
Mishra, Anushree
Devi, Saranya
Saxena, Rohit
Gupta, Neerja
Kabra, Madhulika
Chowdhury, Madhumita Roy
Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
title Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
title_full Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
title_fullStr Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
title_full_unstemmed Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
title_short Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
title_sort frequency of primary mutations of leber's hereditary optic neuropathy patients in north indian population
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700584/
https://www.ncbi.nlm.nih.gov/pubmed/29133642
http://dx.doi.org/10.4103/ijo.IJO_380_17
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