Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
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DOI：
10.1006/bbrc.1997.7166
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发表时间：
1997-09-18
影响因子：
3.1
通讯作者：
Arenas, J
中科院分区：
文献类型：
--
作者：
Campos, Y;Martin, MA;Arenas, J
我们发现了一个新的母系遗传T3308 C突变的mtDNA ND 1基因在患者双侧纹状体坏死和中风样发作。先证者的肌肉活检显示血管中的线粒体增殖和正常的呼吸链活动，该突变在100名正常对照或30名线粒体疾病患者中不存在，在先证者的肌肉和血液以及她无症状的母亲的血液中均为异质性的，该突变导致高度保守的氨基酸位置1处的Met -> Thr改变，T3308 C突变可能改变ND 1 N端肽段的疏水性和抗原性。(C)北京：科学出版社.
We found a novel maternally inherited T3308C mutation in the mtDNA ND1 gene in a patient with bilateral striatal necrosis and stroke-like episodes. Muscle biopsy from the proband showed mitochondrial proliferation in blood vessels and normal respiratory chain activities, The mutation, which was not present in 100 normal controls or in 30 patients with mitochondrial disease, was heteroplasmic in both muscle and blood of the proband and in blood from her asymptomatic mother, This mutation results in a Met --> Thr change at the highly conserved amino acid position 1, The T3308C mutation may alter the hydrophobicity and antigenicity of the N-terminal peptide of ND1. (C) 1997 Academic Press.