A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE
A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE
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DOI：
10.1016/0960-8966(94)00079-o
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发表时间：
1995-09-01
影响因子：
2.8
通讯作者：
DIMAURO, S
中科院分区：
文献类型：
--
作者：
MANFREDI, G;SCHON, EA;DIMAURO, S
我们报告一位患有线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)的患者，他在细胞色素C氧化酶(COX III)的亚基III基因的9957位有一个新的错义突变。这种T-->；C转变将Phe-251转化为Leu，Phe-251是多肽C末端的一种高度保守的氨基酸。这种突变在107名正常对照组或57名患有各种线粒体疾病的患者中不存在，在先证者的肌肉和血液以及他没有症状的母亲的血液中都是异质性的。这些结果提供了证据，证明MELAS临床表型可能不仅是由于mtDNA编码的tRNA基因的突变，也是由于多肽编码基因的突变。
We report a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) who harbored a novel missense-mutation at mtDNA position 9957 in the gene specifying subunit III of cytochrome c oxidase (COX III). This T-->C transition converted Phe-251, a highly conserved amino acid in the C-terminus of the polypeptide, to Leu. The mutation, which was not present in 107 normal controls or in 57 patients with various mitochondrial diseases, was heteroplasmic in both muscle and blood of the proband and in blood from his asymptomatic mother. These results provide evidence that the MELAS clinical phenotype can be due not only to mutations in mtDNA-encoded tRNA genes, but in polypeptide-coding genes as well.