Nopasak PhasukkijwatanaWanicha L. ChuenkongkaewRungnapa SuphavilaiKomon LuangtrakoolBussaraporn KunhapanPatcharee LertritMahidol University2018-08-202018-08-202006-12-01Journal of Human Genetics. Vol.51, No.12 (2006), 1110-1117143451612-s2.0-33751293068https://repository.li.mahidol.ac.th/handle/20.500.14594/22935Leber 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1007/s10038-006-0073-6