Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Alias:

Melas Syndrome

Melas

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes

Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Juvenile Myopathy, Encephalopathy, Lactic Acidosis and Stroke

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

线粒体肌病、脑病、乳酸酸中毒和类似中风的发作，也称为梅拉斯综合症，与线粒体肌病和乳酸酸中毒有关，其症状包括肌痛、偏瘫和眼肌麻痹。与线粒体肌病、脑病、乳酸酸中毒和类似中风的发作有关的重要基因是MT-ND6（线粒体编码的NADH：泛醌氧化还原酶核心亚基6），其相关通路/超级通路包括呼吸电子传递、化学偶联合成ATP和热能通过解偶联蛋白产生。和复合I生物合成。在该疾病的背景下提到了疫苗和免疫因子。附属组织包括大脑和眼睛，相关表型为癫痫和EEG异常。

Related ID：

MALACARDS：MTC114

OMIM：540000

MESH：D017241