Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
Ann N Y Acad Sci. 2010 Jul;1201:104-10. doi: 10.1111/j.1749-6632.2010.05624.x.
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited multisystem mitochondrial disorder. Although many molecular and cellular mechanisms have been discovered leading to mitochondrial cytopathy, the pathogenic mechanism of stroke-like episodes seen in MELAS has not been clarified yet. According to the muscle and brain pathology and vascular physiology, mitochondrial angiopathy, or endothelial dysfunction, were proposed to play an important role for developing stroke-like episodes. Based on a hypothesis of mitochondrial angiopathy theory, we use L-arginine in MELAS patients and report its usefulness. This review aims to give a general idea on the actual knowledge about the possible pathogenic mechanism of stroke-like episodes, including clinical symptoms that lead to stroke-like episodes, muscle, or brain pathology, molecular cellular functions, neuroimagings including MRI, MRS, and SPECT, and the proposed site of action of L-arginine therapy on MELAS patients. Currently, L-arginine therapy may be the most promising for the treatment of stroke-like episodes in MELAS.
线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）是一种母系遗传的多系统线粒体疾病。虽然已经发现了许多导致线粒体细胞病变的分子和细胞机制，但 MELAS 中所见卒中样发作的发病机制尚未阐明。根据肌肉和脑部病理学以及血管生理学，有人提出线粒体血管病或内皮功能障碍在发生卒中样发作中起重要作用。基于线粒体血管病理论的假说，我们在 MELAS 患者中使用 L-精氨酸，并报告其有用性。本综述旨在概述关于卒中样发作可能发病机制的一般认识，包括导致卒中样发作的临床症状、肌肉或脑部病理学、分子细胞功能、包括 MRI、MRS 和 SPECT 在内的神经影像学，以及 L-精氨酸治疗在 MELAS 患者中的作用部位。目前，L-精氨酸治疗可能是治疗 MELAS 卒中样发作最有希望的方法。
