Fan Hueng-Chuen, Lee Hsiu-Fen, Yue Chen-Tang, Chi Ching-Shiang
Department of Pediatrics, Tungs' Taichung Metroharbor Hospital, Wuchi, Taichung 435, Taiwan.
Department of Medical Research, Tungs' Taichung Metroharbor Hospital, Wuchi, Taichung 435, Taiwan.
Life (Basel). 2021 Oct 20;11(11):1111. doi: 10.3390/life11111111.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in the MT-TL1 gene encoding the mitochondrial tRNA-leu(UUR), which results in impaired mitochondrial translation and protein synthesis involving the mitochondrial electron transport chain complex subunits, leading to impaired mitochondrial energy production. Angiopathy, either alone or in combination with nitric oxide (NO) deficiency, further contributes to multi-organ involvement in MELAS syndrome. Management for MELAS syndrome is amostly symptomatic multidisciplinary approach. In this article, we review the clinical presentations, pathogenic mechanisms and options for management of MELAS syndrome.
线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）综合征是一种母系遗传的线粒体疾病，其特点是具有遗传、生化和临床复杂性。与MELAS综合征相关的最常见突变是编码线粒体亮氨酰tRNA（UUR）的MT-TL1基因中的线粒体DNA A3243G突变，这会导致线粒体翻译和涉及线粒体电子传递链复合物亚基的蛋白质合成受损，进而导致线粒体能量产生受损。血管病变单独或与一氧化氮（NO）缺乏共同作用，进一步促使MELAS综合征出现多器官受累。MELAS综合征的管理主要是对症的多学科方法。在本文中，我们综述了MELAS综合征的临床表现、致病机制和管理方案。
