Ding Yu, Leng Jianhang
Central Laboratory, Hangzhou First People's Hospital, Hangzhou, People's Republic of China.
Mitochondrial DNA. 2012 Aug;23(4):323-6. doi: 10.3109/19401736.2012.674119. Epub 2012 Apr 3.
According to a recent report by Sunami et al., a maternally inherited Japanese family with variable phenotypes including mitochondrial myopathy, recurrent headache, and myoclonus and epilepsy had been described to be associated with mitochondrial tRNA(Leu(UUR)) 3291T>C mutation. In order to verify this association, we reanalyzed the clinical and molecular datasets obtained from Sunami's work; in addition, a phylogenetic approach was employed to evaluate the conservation index of this mutation among different species. We further utilized RNA Fold Web Server to predict the minimum free energy (MFE) of tRNA(Leu(UUR)) gene with and without this mutation. Most strikingly, a low level of conservation was found regarding 3291T>C mutation and a slight change in MFE had been observed between the wild type and the mutant. Our negative results gave no support for an active role for this mutation on the clinical expression of mitochondrial disorders.
根据角南等人最近的一份报告，一个具有线粒体肌病、复发性头痛、肌阵挛和癫痫等可变表型的母系遗传日本家族被描述为与线粒体tRNA(Leu(UUR)) 3291T>C突变相关。为了验证这种关联，我们重新分析了从角南的研究中获得的临床和分子数据集；此外，采用系统发育方法评估该突变在不同物种间的保守指数。我们进一步利用RNA Fold网络服务器预测有和没有这种突变的tRNA(Leu(UUR))基因的最小自由能(MFE)。最引人注目的是，发现3291T>C突变的保守性较低，并且在野生型和突变型之间观察到MFE有轻微变化。我们的阴性结果不支持该突变在线粒体疾病临床表型中起积极作用。
