You Cuiping, Tao Rui, Su Quanping, Lu Yucheng, Wang Long, Liu Shu, Wang Lifen, Wang Lijuan, Xue Fuzhong, Che Fengyuan
Department of Central Laboratory, Linyi People's Hospital, Shandong University, Linyi, Shandong Province, China.
Department of Neurology, Linyi People's Hospital, Shandong University, Linyi, Shandong Province, China.
Mitochondrial DNA B Resour. 2019 Jul 12;4(2):2387-2391. doi: 10.1080/23802359.2019.1633963.
Epilepsy is a common and chronic neurological disease with a high degree of genetic heterogeneity. The etiology and pathogenesis of the disease have not been fully understood. Many studies suggested that there was a reciprocal relationship between mitochondrial dysfunction and epilepsy, but few studies focused on the mitochondrial genome (mtDNA) of the epilepsy patient which was extremely important for the mitochondrial function. In our study, we obtained complete mtDNA sequences of 27 idiopathic epilepsy patients and healthy people, and compared the sequence data with 30,000 GenBank sequences including 277 Han Chinese mtDNA sequences. We analyzed each variant that might be related to disease and examined the statistically significant variant in more than 300 patients and healthy people. Ultimately, we identified 27 variants which were reported to be associated with diseases, 4 rare variants (321T > G, 15973 T > C, 3897C > A, 12580 C > T), and a nonsynonymous variant (3571 C > T) which was predicted to be damaging. Although no variant was found to be significantly associated with epilepsy, our study provided a new insight into epilepsy study on an aspect of the mitochondrial genome.
癫痫是一种常见的慢性神经疾病，具有高度的遗传异质性。该疾病的病因和发病机制尚未完全明确。许多研究表明线粒体功能障碍与癫痫之间存在相互关系，但很少有研究关注癫痫患者的线粒体基因组（mtDNA），而这对线粒体功能极为重要。在我们的研究中，我们获取了27例特发性癫痫患者和健康人的完整mtDNA序列，并将序列数据与30000条GenBank序列（包括277条汉族人mtDNA序列）进行了比较。我们分析了每个可能与疾病相关的变异，并在300多名患者和健康人中检测了具有统计学意义的变异。最终，我们鉴定出27个据报道与疾病相关的变异、4个罕见变异（321T＞G、15973 T＞C、3897C＞A、12580 C＞T）以及一个预测具有损害性的非同义变异（3571 C＞T）。尽管未发现有变异与癫痫显著相关，但我们的研究在线粒体基因组方面为癫痫研究提供了新的见解。
