Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
Issued Date
2022-07-16
Resource Type
eISSN
23078960
Scopus ID
2-s2.0-85133483295
Journal Title
World Journal of Clinical Cases
Volume
10
Issue
20
Start Page
6944
End Page
6953
Rights Holder(s)
SCOPUS
Bibliographic Citation
World Journal of Clinical Cases Vol.10 No.20 (2022) , 6944-6953
Suggested Citation
Chuenkongkaew W.L., 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 Journal of Clinical Cases Vol.10 No.20 (2022) , 6944-6953. 6953. doi:10.12998/wjcc.v10.i20.6944 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/85714
Title
Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber’s hereditary optic neuropathy: A case report
Author's Affiliation
Other Contributor(s)
Abstract
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.