Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is caused by defective oxidative phosphorylation in the cerebral parenchyma, cerebral blood vessels, and leptomeningeal tissue. Although increased serum and cerebrospinal fluid (CSF) lactate level has been used as a diagnostic biomarker in patients with MELAS, no biomarkers reflecting disease activity exist. Since we have developed a highly sensitive ATP assay system using luciferase luminous reaction, we examined CSF ATP in patients with MELAS and found that it negatively correlates with disease activity and that it reflects the efficacy of the treatment. CSF ATP might be a novel disease monitoring marker for MELAS.

中文翻译：

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脑脊液 ATP 作为线粒体肌病、脑病、乳酸性酸中毒和中风样发作 (MELAS) 患者的潜在生物标志物

线粒体脑病、乳酸性酸中毒和中风样发作 (MELAS) 是由脑实质、脑血管和软脑膜组织中氧化磷酸化缺陷引起的。尽管升高的血清和脑脊液 (CSF) 乳酸水平已被用作 MELAS 患者的诊断生物标志物，但不存在反映疾病活动性的生物标志物。由于我们开发了一种使用萤光素酶发光反应的高灵敏度 ATP 测定系统，我们检查了 MELAS 患者的脑脊液 ATP，发现它与疾病活动度呈负相关，并反映了治疗效果。CSF ATP 可能是 MELAS 的新型疾病监测标志物。