Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy.
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.
Phasukkijwatana
Nopasak
N
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Chuenkongkaew
Wanicha L
WL
Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.|Siriraj Neurogenetics Network, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Suphavilai
Rungnapa
R
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Luangtrakool
Komon
K
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Kunhapan
Bussaraporn
B
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Lertrit
Patcharee
P
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand. sipwy@mahidol.ac.th.|Siriraj Neurogenetics Network, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand. sipwy@mahidol.ac.th.
D044466:Asian People / Q000235:genetics; D004272:DNA, Mitochondrial / Q000097:blood / Q000737:chemistry*; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D017354:Point Mutation; D015995:Prevalence; D016019:Survival Analysis; D013785:Thailand / Q000208:ethnology
D004272:DNA, Mitochondrial