Jančić Jasna, Dejanović Ivana, Samardžić Janko, Radovanović Saša, Pepić Ana, Kosanović-Jaković Natalija, Ćetković Mila, Kostić Vladimir
Clinic of Neurology and Psychiatry for Children and Youth, Medical Faculty, University of Belgrade, Serbia.
Clinic of Neurology and Psychiatry for Children and Youth, Medical Faculty, University of Belgrade, Serbia.
Eur J Paediatr Neurol. 2014 May;18(3):354-9. doi: 10.1016/j.ejpn.2014.01.005. Epub 2014 Jan 25.
Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. However, few countries have published their population-based findings related to this multisystemic disease.
In order to get a better insight into the epidemiological and clinical picture of this maternally inherited disorder, we performed the first population-based clinical and molecular-genetic study of LHON in the Serbian population.
Prospective study included patients who were diagnosed with LHON after detailed medical examination and molecular-genetic confirmation.
We identified 41 individuals from 12 genealogically unrelated families, carrying one of the three "primary" mitochondrial (mt) DNA point mutations associated with LHON. Fourteen of them were clinically affected, giving a minimum point prevalence of 1.9 per 1,000,000. The minimum point prevalence for mtDNA LHON mutations was 5.2 per 1,000,000. Male to female ratio was 6:1. Only one affected patient harboured mutant mtDNA in heteroplasmic condition. All patients were presented with common clinical findings.
We observed significantly lower prevalence and higher gender ratio than expected. However, frequencies of primary mutations, incidence of heteroplasmy and clinical findings are in accordance with other studies in Caucasoid populations. Our results might be a consequence of poor recognition and misdiagnosis due to lack of diagnostic possibilities of the entity in different region of our country or less likely be in part due to specific haplotype background of Serbian population which should be further investigated.
Leber遗传性视神经病变（LHON）是最常见的线粒体疾病。然而，很少有国家发表过基于人群的关于这种多系统疾病的研究结果。
为了更好地了解这种母系遗传疾病的流行病学和临床情况，我们在塞尔维亚人群中开展了第一项基于人群的LHON临床和分子遗传学研究。
前瞻性研究纳入了经过详细医学检查和分子遗传学确诊为LHON的患者。
我们从12个无血缘关系的家族中识别出41名个体，他们携带与LHON相关的三种“主要”线粒体（mt）DNA点突变之一。其中14人有临床症状，最低点患病率为每100万人1.9例。mtDNA LHON突变的最低点患病率为每100万人5.2例。男女比例为6:1。只有一名患病患者的突变mtDNA处于异质性状态。所有患者均有常见的临床症状。
我们观察到患病率明显低于预期，性别比例高于预期。然而，主要突变的频率、异质性发生率和临床症状与高加索人群的其他研究结果一致。我们的结果可能是由于我国不同地区对该疾病缺乏诊断手段导致识别不足和误诊，或者不太可能部分是由于塞尔维亚人群特定的单倍型背景，这一点有待进一步研究。
