Publication: Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy
Issued Date
2005-09-01
Resource Type
ISSN
10708022
Other identifier(s)
2-s2.0-24944517167
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Neuro-Ophthalmology. Vol.25, No.3 (2005), 173-175
Suggested Citation
Wanicha L. Chuenkongkaew, Rungnapa Suphavilai, Lookjan Vaeusorn, Nopasak Phasukkijwatana, Patcharee Lertrit, Bhoom Suktitipat Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology. Vol.25, No.3 (2005), 173-175. doi:10.1097/01.wno.0000176631.87234.49 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/16828
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy
Other Contributor(s)
Abstract
Background: The proportion of mutant mtDNA in blood has been found to correlate with the frequency of visual loss in cases with mtDNA mutations associated with Leber hereditary optic neuropathy (LHON), especially in men. We sought to determine this correlation in a Thai population of LHON. Methods: Densitometric quantification of blood mtDNA with the 11778 LHON mutation in 137 symptomatic cases and their asymptomatic maternal relatives in 30 Asian pedigree families was performed. Asymptomatic maternal relatives under the age of 16 years were excluded. The visual outcome in symptomatic cases with homoplasmy and heteroplasmy was compared. Results: Heteroplasmy was detected in eight (12.9%) symptomatic and 30 (40%) asymptomatic individuals. The quantification of blood mutant mtDNA in the eight symptomatic cases ranged from 44% to 93% (mean = 75%). The visual outcome of the cases with heteroplasmy was not different from that of cases with homoplasmy. There was a correlation between the proportion of mutant mtDNA and the likelihood of visual loss. Conclusions: The prevalence of heteroplasmy among pedigrees of the 11778 LHON mutation in Thailand was similar to that of other Asian populations and may be greater than in 11778 LHON pedigrees from white backgrounds. The proportion of mutated mtDNA correlated with visual loss, but the effect of heteroplasmy on clinical expression seemed not to relate to gender.