Publication: Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy
Issued Date
2006-12-01
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ISSN
14345161
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2-s2.0-33751293068
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Human Genetics. Vol.51, No.12 (2006), 1110-1117
Suggested Citation
Nopasak Phasukkijwatana, Wanicha L. Chuenkongkaew, Rungnapa Suphavilai, Komon Luangtrakool, Bussaraporn Kunhapan, Patcharee Lertrit Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy. Journal of Human Genetics. Vol.51, No.12 (2006), 1110-1117. doi:10.1007/s10038-006-0073-6 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/22935
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Title
Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy
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Abstract
Leber hereditary optic neuropathy (LHON) is characterized by the acute or subacute bilateral painless loss of central vision, predominantly in young males. G11778A is the most common mitochondrial DNA mutation responsible for the disease. Thirty-seven percent of our LHON pedigrees (which is a much higher prevalence than that generally found) carried heteroplasmic G11778A. Analyses of four large Thai LHON pedigrees spanning four to six generations strongly suggested that the transmission of the heteroplasmic G11778A mutation is under selective pressure in favour of the mutated allele and that heteroplasmy influences the disease expression. © 2006 The Japan Society of Human Genetics and Springer.