Chuenkongkaew WL, Chinkulkitnivat B, Lertrit P, Chirapapaisan N, Kaewsutthi S, Suktitipat B, Mitrpant C. Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report . World J Clin Cases 2022; 10(20): 6944-6953 [PMID: 36051150 DOI: 10.12998/wjcc.v10.i20.6944]
Corresponding Author of This Article
Wanicha Leetiratanai Chuenkongkaew, MD, Professor, Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 85/82 Moo 4 Soi Chimplee 28, Talinchan 10170, Bangkok, Thailand. wim.wanicha@gmail.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
Wanicha Leetiratanai Chuenkongkaew, Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok10170, Thailand
Buakhwan Chinkulkitnivat, Niphon Chirapapaisan, Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Patcharee Lertrit, Supannee Kaewsutthi, Bhoom Suktitipat, Chalermchai Mitrpant, Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Author contributions: Chuenkongkaew WL designed the report, analyzed the data and made critical revisions; Chinkulkitnivat B contributed to manuscript drafting; Lertrit P and Suktitipat B analyzed and interpreted the data; Chirapapaisan N analyzed and interpreted the imaging findings; Kaewsutthi S and Mitrpant C collected the patients’ data; all authors issued final approval for the version to be submitted.
Supported bythe Faculty of Medicine Siriraj Hospital, Mahidol University, No. (IO) R015731040.
Informed consent statement: Informed written consent was obtained from the patients for the publication of this report and any accompanying images.
Conflict-of-interest statement: All authors have no conflict of interest related to the manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: 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/
Corresponding author: Wanicha Leetiratanai Chuenkongkaew, MD, Professor, Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 85/82 Moo 4 Soi Chimplee 28, Talinchan 10170, Bangkok, Thailand. wim.wanicha@gmail.com
Received: September 20, 2021 Peer-review started: September 20, 2021 First decision: December 27, 2021 Revised: January 7, 2022 Accepted: May 13, 2022 Article in press: May 13, 2022 Published online: July 16, 2022 Processing time: 287 Days and 3.5 Hours
Abstract
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.
Core Tip: This is the first report of a pair of monozygotic twins homoplasmic for 14484T>C mutation discordant for Leber’s hereditary optic neuropathy during an 11-year follow-up. This interval between the discordant pair of twins is the longest reported to date.
