Tonska Katarzyna, Kurzawa Marzena, Ambroziak Anna M, Korwin-Rujna Magdalena, Szaflik Jacek P, Grabowska Ewa, Szaflik Jerzy, Bartnik Ewa
Department of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, Warsaw, Poland.
Mitochondrion. 2008 Dec;8(5-6):383-8. doi: 10.1016/j.mito.2008.08.002. Epub 2008 Aug 29.
Three mutations in mitochondrial DNA complex I genes are responsible for over 90% of Leber hereditary optic neuropathy (LHON) cases in Europe. A family with two LHON mutations--practically homoplasmic 11778G>A and varying levels of 3460G>A--was found during analysis of Polish patients. DNA and visual acuity was analyzed in four affected brothers and their unaffected sister and mother as well as in their step brother. Four male patients experienced vision loss around the age of 20 while for their step brother the onset was late--at the age of 33. No additional neurological symptoms were observed and both women were completely asymptomatic. The mutation occurred in a haplogroup H background, the most common one in both the Polish population and among patients. Double LHON mutations are extremely rare, and this particular combination has not been previously described in the literature.
线粒体DNA复合体I基因中的三种突变导致了欧洲90%以上的Leber遗传性视神经病变（LHON）病例。在对波兰患者的分析过程中，发现了一个有两种LHON突变的家族——几乎完全同质的11778G>A和不同水平的3460G>A。对四名患病兄弟及其未患病的姐妹、母亲以及他们的继兄弟进行了DNA和视力分析。四名男性患者在20岁左右出现视力丧失，而他们的继兄弟发病较晚——33岁。未观察到其他神经症状，两名女性完全无症状。该突变发生在单倍群H背景下，这是波兰人群和患者中最常见的一种。双LHON突变极为罕见，这种特殊组合此前在文献中尚未有描述。
