Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy
Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy
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DOI：
10.1097/01.wno.0000176631.87234.49
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发表时间：
2005-09-01
影响因子：
2.9
通讯作者：
Suktitipat, B
中科院分区：
文献类型：
--
作者：
Chuenkongkaew, WL;Suphavilai, R;Suktitipat, B
背景：已发现血液中突变 mtDNA 的比例与 Leber 遗传性视神经病 (LHON) 相关 mtDNA 突变病例的视力丧失频率相关，尤其是男性。我们试图确定泰国 LHON 人群中的这种相关性。方法：对 30 个亚洲谱系家庭中的 137 个有症状病例及其无症状母系亲属进行了带有 11778 LHON 突变的血液 mtDNA 光密度定量。 16岁以下无症状母亲亲属被排除在外。比较了同质性和异质性有症状病例的视觉结果。结果：在 8 名（12.9%）有症状个体和 30 名（40%）无症状个体中检测到异质性。 8 个有症状病例中血液突变 mtDNA 的定量范围为 44% 至 93%（平均值 = 75%）。异质性病例的视觉结果与同质性病例没有不同。突变mtDNA的比例与视力丧失的可能性之间存在相关性。结论：泰国11778 LHON突变家系中异质性的发生率与其他亚洲人群相似，并且可能高于白人背景的11778 LHON家系中的异质性发生率。突变线粒体DNA的比例与视力丧失相关，但异质性对临床表达的影响似乎与性别无关。
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.