摘要目的 在线粒体疾病中,亮氨酸转运核糖核酸1(tRNA1)基因突变是最为常见的致病突变之一,我们回顾性分析亮氨酸tRNA1基因突变所导致患者的临床特征和病理特点,以及与突变负荷的关系.方法 经测序确认的亮氨酸tRNA1基因突变(MTTL1*3243A>G,3271A>T)患者18例.回顾性分析线粒体亮氨酸转运核糖核酸1(MTTL1)突变患者的临床表型、病理学特点、遗传和分子生物学特征.结果 MTTL1突变导致线粒体腩肌病伴高乳酸血症和脑卒中样发作(MELAS)表型最多(13例),其次可见于糖尿病(1例)、进行性眼外肌麻痹(1例)以及Leigh综合征(1例)和未分类的线粒体病(2例).多数患者为散发,有5例患者为母系遗传.表型与突变负荷无显著相关.结论 MTTL1基因突变具有高度的表型变异,表型与突变负荷无明显关系.

abstractsObjective Mitochondrial transfer RNA for leucine 1(MTTL1)is one of the most important causative genes of oxidative phosphorylation disorders.To understand the clinical,pathological and molecular genetics features of the disordel's caused by MTTL1 mutation.18 patients with a causative mutation in MTTL1 were analyzed.Methods The clinical features,the findings of tlleir biochemistry tests.the neuroimagings,the pathology of biopsied muscles and hereditary characteristics were retrospectively summarized.Results The mutations mt3243A>G and mt3271A>T within MTTL1 gene led to variant syndrome,encephalomyopathies with lactic acidosis and stroke like episodes,diabetes mellitus,progressive external ophthalmoplegia,leish syndrome and complex mitochondrial syndrome were reported.Usually,most patients were sporadic but maternal transmission was the common inherited model.Conclusion The disorders caused by the MTTL1 mutation are hishly phenotypic vailable.There is no association between phenotype and heteroplasmy in muscle.