Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia
Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia
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DOI：
10.1016/s0002-9378(96)70619-1
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发表时间：
1996-05-01
影响因子：
9.8
通讯作者：
Oian, P
中科院分区：
文献类型：
--
作者：
Folgero, T;Storbakk, N;Oian, P
目的：探讨母系遗传性线粒体脱氧核糖核酸突变是否与子痫前期有关，因为孟德尔模型不能解释先兆子痫遗传的所有方面。研究设计：在两个子痫前期和子痫高发家系中，分别对8名和3名女性的22个线粒体转移核糖核酸基因进行了测序。结果：在一个家族中发现了转移核糖核酸(Leu)3243位A-G突变，在另一个家系中发现了转移核糖核酸(LEU)12308位核苷酸A-G突变。线粒体转移核糖核酸基因突变通常被认为具有全身性后果，这可能解释了先兆子痫多器官受累的原因。结论：我们首次报道了两个先兆子痫和子痫高发家系的线粒体转移核糖核酸基因突变。线粒体脱氧核糖核酸点突变引起的线粒体功能障碍是母系遗传的，但在核基因突变的情况下，线粒体功能障碍可以遗传为常染色体隐性或显性性状。
OBJECTIVE: We investigated whether maternally inherited mitochondrial deoxyribonucleic acid mutations could be associated with preeclampsia because mendelian models fail to explain all the aspects of inheritance in preeclampsia.STUDY DESIGN: In two families with a high occurrence of preeclampsia and eclampsia the 22 mitochondrial transfer ribonucleic acid genes were sequenced in eight and three women, respectively.RESULTS: An A-to-G mutation in transfer ribonucleic acid(leu)[UUR] at nucleotide 3243 was found in one family, and in the other there was an A-to-G mutation at nucleotide 12308 in transfer ribonucleic acid(leu)[GUN]. Mutations of mitochondrial transfer ribonucleic acid genes are generally considered to have systemic consequences, which might explain the multiorgan involvement seen in preeclampsia.CONCLUSION: We report for the first time mutations in mitochondrial transfer ribonucleic acid genes in two families with a high occurrence of preeclampsia and eclampsia. Mitochondrial dysfunction caused by point mutations of mitochondrial deoxyribonucleic acid is maternally inherited, but in the case of mutations oi nuclear genes mitochondrial dysfunction can be inherited as an autosomal recessive or dominant trait.