The study of mitochondrial A3243G mutation in different samples
The study of mitochondrial A3243G mutation in different samples
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不同样本中线粒体A3243G突变的研究
DOI：
10.1016/j.mito.2009.01.004
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发表时间：
2009-04-01
期刊：
影响因子：
4.4
通讯作者：
Qi, Yu
中科院分区：
文献类型：
--
作者：
Ma, Yinan;Fang, Fang;Qi, Yu
线粒体脑病、乳酸酸中毒和卒中样发作综合征（MELAS）是线粒体DNA A3243G突变最常见的综合征表现。血液中A3243G突变的检测对MELAS及其携带者的诊断帮助不大，血液中的突变率仅在有限程度上与疾病的严重程度相关。本研究比较了32个MELAS携带者及其母系亲属的4种常见样本（血液、尿液、毛囊和唾液）中A3243G突变的比例，以寻找适合于MELAS携带者及其携带者检测的样本，并从其突变比例中寻找对临床病情评估有用的样本。在MELAS患者和症状轻微或表型正常的携带者中，尿液中A3243G突变率显著高于血液。先证者及其亲属血、尿、毛囊和唾液中A3243G突变率均呈显著正相关。临床特征与尿基因突变率密切相关。尿A3243 G突变率检测是一种无创、方便、快速的方法，其诊断意义上级于血液检测。皇冠版权所有（C）2009年出版的爱思唯尔B.V.保留所有权利。
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome (MELAS) is the most frequent syndromic manifestation of A3243G mutation in mitochondrial DNA. Detection of A3243G mutation in blood is less helpful for the diagnosis of MELAS and the carriers, and the mutation ratio in blood correlates only in a limited extent with the severity of the disease. Here we compared the ratio of A3243G mutation in four easily available samples (blood, urine, hair follicle and saliva) in patients with MELAS carrying A3243G mutation as well as their maternal relatives from 32 families, to find out the samples appropriate for the detection of the patients and carriers and useful for the evaluation of clinical severity from their mutation ratio. In MELAS patients and the carriers with minor symptoms or normal phenotype, A3243G mutation ratio was significantly higher in urine than in blood. A close correlation between A3243G mutation ratio in blood and that in urine, hair follicles and saliva was found in the probands and their relatives. Clinical features closely correlated with the mutation ratio in urine. Measurement of A3243G mutation ratio in urine is a non-invasive, convenient and rapid method with its diagnostic meaning superior to blood testing. Crown Copyright (C) 2009 Published by Elsevier B.V. All rights reserved.