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Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report

BACKGROUND: This study aimed to explore clinical and molecular factors that cause discordance for clinical expression of Leber’s hereditary optic neuropathy (LHON) in a pair of identical twins with the 14484 point mutation. CASE SUMMARY: Twin patients with the 14484 point mutation were studied for z...

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Autores principales: Chuenkongkaew, Wanicha Leetiratanai, Chinkulkitnivat, Buakhwan, Lertrit, Patcharee, Chirapapaisan, Niphon, Kaewsutthi, Supannee, Suktitipat, Bhoom, Mitrpant, Chalermchai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297404/
https://www.ncbi.nlm.nih.gov/pubmed/36051150
http://dx.doi.org/10.12998/wjcc.v10.i20.6944
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author Chuenkongkaew, Wanicha Leetiratanai
Chinkulkitnivat, Buakhwan
Lertrit, Patcharee
Chirapapaisan, Niphon
Kaewsutthi, Supannee
Suktitipat, Bhoom
Mitrpant, Chalermchai
author_facet Chuenkongkaew, Wanicha Leetiratanai
Chinkulkitnivat, Buakhwan
Lertrit, Patcharee
Chirapapaisan, Niphon
Kaewsutthi, Supannee
Suktitipat, Bhoom
Mitrpant, Chalermchai
author_sort Chuenkongkaew, Wanicha Leetiratanai
collection PubMed
description BACKGROUND: This study aimed to explore clinical and molecular factors that cause discordance for clinical expression of Leber’s hereditary optic neuropathy (LHON) in a pair of identical twins with the 14484 point mutation. CASE SUMMARY: Twin patients with the 14484 point mutation were studied for zygosity by using the Short Tandem Repeats Typing system. For the monozygotic twins, the radioactive restriction and densitometric analyses were used to quantitate the heteroplasmy level for the 14484 point mutation. The mitochondrial genome was analyzed to determine influential factors by mitochondrial deoxyribonucleic acid (DNA) sequencing, denaturing high-performance liquid chromatography and next generation sequencing. For the dizygotic twins, the nuclear DNA was analyzed. The twins with 14484 LHON were monozygotic with homoplasmy. No difference in the point mutation in mitochondrial DNA was found. No modifying genes that potentially influenced the disparity in phenotypic expression of LHON were detected in these twins. CONCLUSION: This 11-year follow-up of monozygotic twins showed additional genetic modifications and epigenetic factors are possibly associated with discordance for LHON.
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spelling pubmed-92974042022-08-31 Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report Chuenkongkaew, Wanicha Leetiratanai Chinkulkitnivat, Buakhwan Lertrit, Patcharee Chirapapaisan, Niphon Kaewsutthi, Supannee Suktitipat, Bhoom Mitrpant, Chalermchai World J Clin Cases Case Report BACKGROUND: This study aimed to explore clinical and molecular factors that cause discordance for clinical expression of Leber’s hereditary optic neuropathy (LHON) in a pair of identical twins with the 14484 point mutation. CASE SUMMARY: Twin patients with the 14484 point mutation were studied for zygosity by using the Short Tandem Repeats Typing system. For the monozygotic twins, the radioactive restriction and densitometric analyses were used to quantitate the heteroplasmy level for the 14484 point mutation. The mitochondrial genome was analyzed to determine influential factors by mitochondrial deoxyribonucleic acid (DNA) sequencing, denaturing high-performance liquid chromatography and next generation sequencing. For the dizygotic twins, the nuclear DNA was analyzed. The twins with 14484 LHON were monozygotic with homoplasmy. No difference in the point mutation in mitochondrial DNA was found. No modifying genes that potentially influenced the disparity in phenotypic expression of LHON were detected in these twins. CONCLUSION: This 11-year follow-up of monozygotic twins showed additional genetic modifications and epigenetic factors are possibly associated with discordance for LHON. Baishideng Publishing Group Inc 2022-07-16 2022-07-16 /pmc/articles/PMC9297404/ /pubmed/36051150 http://dx.doi.org/10.12998/wjcc.v10.i20.6944 Text en ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
spellingShingle Case Report
Chuenkongkaew, Wanicha Leetiratanai
Chinkulkitnivat, Buakhwan
Lertrit, Patcharee
Chirapapaisan, Niphon
Kaewsutthi, Supannee
Suktitipat, Bhoom
Mitrpant, Chalermchai
Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
title Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
title_full Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
title_fullStr Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
title_full_unstemmed Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
title_short Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
title_sort clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 leber’s hereditary optic neuropathy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297404/
https://www.ncbi.nlm.nih.gov/pubmed/36051150
http://dx.doi.org/10.12998/wjcc.v10.i20.6944
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