Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes.
Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes.
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DOI：
10.1186/1471-2350-15-84
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发表时间：
2014-07-23
影响因子：
--
通讯作者：
Chen Y
中科院分区：
文献类型：
--
作者：
Liu Y;Li Y;Gao J;Zhu C;Lan Y;Yang J;Li Z;Guan M;Chen Y
高血压是一种常见的心血管疾病，受多种遗传和环境因素影响。最近，有研究表明线粒体DNA突变参与了该病的发病。在本研究中，我们对这一关系进行了进一步的研究。流行病学研究发现一个汉族家庭可能患有母源性高血压。对所有家系成员进行了线粒体DNA全序列分析。并对其临床、遗传学和分子生物学特征进行了评价。家族中的母系亲属表现出不同程度的高血压，发病年龄为48-55岁。对该家系进行序列分析，发现一个新的同质4329C >； G突变，位于tRNAIle和tRNAGln基因的3‘端，在36 6名中国人中缺失。位于4329位的胞嘧啶(C)在功能性tRNAs的结构形成和稳定中起着非常重要的作用，它在各种生物的线粒体中高度保守，也有助于受体臂的高度保真度。携带这种突变的细胞也被发现存在线粒体功能障碍。TRNAIle和tRNAGln基因C4329G点突变参与了高血压的发病过程，可能与其他修饰因素有关。
Hypertension is a very common cardiovascular disease influenced by multiple genetic and environmental factors. More recently, there are some studies showed that mutations in mitochondrial DNA have been involved in its pathogenesis. In this study we did further investigations on this relationship. Epidemiological research found a Han Chinese family with probable maternally transmitted hypertension. Sequence analysis of the whole mitochondrial DNA was detected from all the family members. And evaluations of the clinical, genetic and molecular characterization were also performed. Matrilineal relatives within the family exhibited varying degrees of hypertension with an onset age of 48–55 years. Sequence analysis of this pedigree showed a novel homoplasmic 4329C > G mutation located at the 3’ end of the tRNAIle and tRNAGln genes that was absent from 366 Chinese controls. The cytosine (C) at 4329 position was very important in the structural formation and stabilization of functional tRNAs, which was highly conserved in mitochondria of various organisms and also contributed to the high fidelity of the acceptor arm. Cells carrying this mutation were also shown to harbor mitochondrial dysfunctions. The C4329G point mutation in tRNAIle and tRNAGln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors.
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DOI：
10.1161/hypertensionaha.109.128702
发表时间：
2009-06
期刊：
Hypertension (Dallas, Tex. : 1979)
影响因子：
--
作者：
Liu Y;Li R;Li Z;Wang XJ;Yang L;Wang S;Guan MX
通讯作者：
Guan MX
DOI：
10.1016/j.bbrc.2007.12.150
发表时间：
2008-03-21
影响因子：
3.1
作者：
Li, Zongbin;Liu, Yuqi;Guan, Min-Xin
通讯作者：
Guan, Min-Xin
影响因子：
3.2
作者：
Schwartz, F;Duka, A;Gavras, H
通讯作者：
Gavras, H
影响因子：
3.5
作者：
Ronghua, Li;Qu, Jia;Guan, Min-Xin
通讯作者：
Guan, Min-Xin
DOI：
10.1161/hypertensionaha.109.129270
发表时间：
2009-08
期刊：
Hypertension (Dallas, Tex. : 1979)
影响因子：
--
作者：
Li R;Liu Y;Li Z;Yang L;Wang S;Guan MX
通讯作者：
Guan MX