Yatsuga Shuichi, Povalko Nataliya, Nishioka Junko, Katayama Koju, Kakimoto Noriko, Matsuishi Toyojiro, Kakuma Tatsuyuki, Koga Yasutoshi
Department of Pediatrics and Child Health, Kurume University Graduate School of Medicine, Kurume, Japan.
Biochim Biophys Acta. 2012 May;1820(5):619-24. doi: 10.1016/j.bbagen.2011.03.015. Epub 2011 Apr 2.
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) (OMIM 540000) is the most dominant subtype of mitochondrial myopathy. The aim of this study was to determine the prevalence, natural course, and severity of MELAS.
A prospective cohort study of 96 Japanese patients with MELAS was followed between June 2003 and April 2008. Patients with MELAS were identified and enrolled based on questionnaires administered to neurologists in Japan. MELAS was defined using the Japanese diagnostic criteria for MELAS. Two follow-up questionnaires were administered to neurologists managing MELAS patients at an interval of 5years.
A prevalence of at least 0.58 (95% confidential interval (CI), 0.54-0.62)/100,000 was calculated for mitochondrial myopathy, whereas the prevalence of MELAS was 0.18 (95%CI, 0.02-0.34)/100,000 in the total population. MELAS patients were divided into two sub-groups: juvenile form and adult form. Stroke-like episodes, seizure and headache were the most frequent symptoms seen in both forms of MELAS. Short stature was significantly more frequent in the juvenile form, whereas hearing loss, cortical blindness and diabetes mellitus were significantly more frequent in the adult form. According to the Japanese mitochondrial disease rating scale, MELAS patients showed rapidly increasing scores (mean±standard deviation, 12.8±8.7) within 5years from onset of the disease. According to a Kaplan-Meier analysis, the juvenile form was associated with a higher risk of death than the adult form (hazard ratio, 3.29; 95%CI, 1.32-8.20; p=0.0105).
We confirmed that MELAS shows a rapid degenerative progression within a 5-year interval and that this occurs in both the juvenile and the adult forms of MELAS and follows different natural courses. This article is part of a Special Issue entitled: Biochemistry of Mitochondria.
线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）（OMIM 540000）是线粒体肌病最主要的亚型。本研究旨在确定MELAS的患病率、自然病程及严重程度。
2003年6月至2008年4月，对96例日本MELAS患者进行了一项前瞻性队列研究。通过向日本神经科医生发放调查问卷来识别和招募MELAS患者。MELAS根据日本MELAS诊断标准进行定义。每隔5年向管理MELAS患者的神经科医生发放两份随访调查问卷。
线粒体肌病的患病率至少为0.58（95%可信区间（CI），0.54 - 0.62）/100,000，而MELAS在总人口中的患病率为0.18（95%CI，0.02 - 0.34）/100,000。MELAS患者分为两个亚组：青少年型和成人型。卒中样发作、癫痫发作和头痛是两种类型MELAS中最常见的症状。身材矮小在青少年型中显著更常见，而听力丧失、皮质盲和糖尿病在成人型中显著更常见。根据日本线粒体疾病评分量表，MELAS患者在疾病发作后5年内评分迅速增加（平均值±标准差，12.8±8.7）。根据Kaplan - Meier分析，青少年型比成人型的死亡风险更高（风险比，3.29；95%CI，1.32 - 8.20；p = 0.0105）。
我们证实MELAS在5年期间呈现快速退行性进展，且青少年型和成人型均如此，并且遵循不同的自然病程。本文是名为：线粒体生物化学的特刊的一部分。
