The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees

被引：0
作者：
Nopasak Phasukkijwatana
Wanicha L. Chuenkongkaew
Rungnapa Suphavilai
Bhoom Suktitipat
Sarinee Pingsuthiwong
Ngamkae Ruangvaravate
La-ongsri Atchaneeyasakul
Sukhuma Warrasak
Anuchit Poonyathalang
Thanyachai Sura
Patcharee Lertrit
机构：
[1] Mahidol University,Department of Biochemistry, Faculty of Medicine Siriraj Hospital
[2] Mahidol University,Department of Ophthalmology, Faculty of Medicine Siriraj Hospital
[3] Mahidol University,Department of Ophthalmology, Faculty of Medicine Ramathibodi Hospital
[4] Mahidol University,Department of Medicine, Faculty of Medicine Ramathibodi Hospital
[5] Mahidol University,Siriraj Neurogenetics Network, Faculty of Medicine Siriraj Hospital
来源：
Journal of Human Genetics | 2006年 / 51卷
关键词：
Mitochondria; Mitochondrial DNA; Mitochondrial genetics; Mitochondrial disease; Leber hereditary optic neuropathy;
D O I：
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中图分类号：
学科分类号：
摘要：
Leber hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral visual loss, and affects mostly young males. The most common mitochondrial DNA mutation responsible for LHON worldwide is G11778A. Despite different genetic backgrounds, which are believed to influence the disease expression, most features of LHON are quite common in different populations. However, there seem to be a few ethnic-specific differences. Analyses of our 30 G11778A LHON pedigrees in Thailand showed some characteristics different from those of Caucasians and Japanese. In particular, our pedigrees showed a lower male to female ratio of affected persons (2.6:1) and much higher prevalence of G11778A blood heteroplasmy (37% of the pedigrees contained at least one heteroplasmic G11778A individual). Heteroplasmicity seemed to influence disease manifestation in our patients but did not appear to alter the onset of the disease. The estimated overall penetrance of our G11778A LHON population was 37% for males and 13% for females. When each of our large pedigrees were considered separately, disease penetration varied from 9 to 45% between the pedigrees, and also varied between different branches of the same large pedigree. Survival analysis showed that the secondary LHON mutations G3316A and C3497T had a synergistic deleterious effect with the G11778A mutation, accelerating the onset of the disease in our patients.
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页码：298 / 304
页数：6
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