McFarland Robert, Elson Joanna L, Taylor Robert W, Howell Neil, Turnbull Douglass M
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle-upon-Tyne NE2 4HH, UK.
Trends Genet. 2004 Dec;20(12):591-6. doi: 10.1016/j.tig.2004.09.014.
Some mutations in mitochondrial tRNA (mt-tRNA) genes cause devastating disease, whereas others have no clinical consequences. We understand little of the factors determining the pathogenicity of specific mt-tRNA mutations, making prediction of clinical outcome extremely difficult. Using extensive sequence databases, we compared the characteristics of neutral variations with those of pathogenic mutations. We recommend that the location of the proposed mutation within the secondary structure of the mt-tRNA molecule and the disruption it causes to Watson-Crick base pairing should be considered when assessing the pathological significance of a novel mt-tRNA mutation.
线粒体转运RNA（mt-tRNA）基因中的一些突变会引发严重疾病，而其他一些突变则没有临床后果。我们对决定特定mt-tRNA突变致病性的因素了解甚少，这使得临床结果的预测极其困难。利用广泛的序列数据库，我们比较了中性变异与致病性突变的特征。我们建议，在评估新的mt-tRNA突变的病理意义时，应考虑该突变在mt-tRNA分子二级结构中的位置以及它对沃森-克里克碱基配对的破坏情况。
