Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes
Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes
复制标题
具有 kearns-sayre 和 MELAS 综合征综合特征的患者线粒体 DNA 缺失
作者：
M. Zupanc;C. Moraes;S. Shanske;C. Langman;E. Ciafaloni;S. Dimauro
一名 9 岁女孩和一名 11 岁男孩患有上睑下垂、进行性眼外肌麻痹、色素性视网膜病变和感音神经性听力损失。女孩患有糖尿病，男孩患有甲状旁腺功能减退症。两个孩子还出现了反复呕吐和脑梗塞并伴有乳酸性酸中毒。肌肉活检标本显示出参差不齐的红色纤维，Southern 分析表明每位患者的肌肉线粒体 DNA 均存在明显的异质性缺失，但没有证据表明最近在线粒体脑肌病、乳酸性酸中毒和中风样发作 (MELAS) 中发现的转移 RNALeu (UUR) 基因存在点突变。这 2 名儿童同时具有 Kearns-Sayre 综合征和 MELAS 的特征，表明线粒体 DNA 缺失偶尔会出现多形性临床表现。
A 9‐year‐old girl and an 11‐year‐old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged‐red fibers and Southern analysis demonstrated a distinct heteropolasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) generecently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). These 2 children had combined features of Kearns‐Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.