The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.
The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.
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氨酰-tRNA合成酶（ARSs）是一种高度保守的必需酶，它负责tRNA的氨基酸合成，是蛋白质合成的第一步。在37个核编码的人类ARS基因中，17个编码的酶专门针对线粒体（mt-ARS）。核mt-ARS基因突变与罕见的隐性人类疾病相关，具有广泛的临床表型。虽然假设的疾病机制是功能丧失效应，但在不同mt-ARS基因突变的患者中以及在相同mt-ARS基因突变的患者中存在显著的临床异质性。这一观察结果表明，其他因素参与疾病的病因。在这篇综述中，我们提出了我们目前的理解所造成的疾病的基因编码的mt-ARSs突变，并提出解释所观察到的临床异质性。
Aminoacyl-tRNA synthetases (ARSs) are highly conserved essential enzymes that charge tRNA with cognate amino acids—the first step of protein synthesis. Of the 37 nuclear-encoded human ARS genes, 17 encode enzymes are exclusively targeted to the mitochondria (mt-ARSs). Mutations in nuclear mt-ARS genes are associated with rare, recessive human diseases with a broad range of clinical phenotypes. While the hypothesized disease mechanism is a loss-of-function effect, there is significant clinical heterogeneity among patients that have mutations in different mt-ARS genes and also among patients that have mutations in the same mt-ARS gene. This observation suggests that additional factors are involved in disease etiology. In this review, we present our current understanding of diseases caused by mutations in the genes encoding mt-ARSs and propose explanations for the observed clinical heterogeneity.
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影响因子：
3.5
作者：
Boczonadi V;Jennings MJ;Horvath R
通讯作者：
Horvath R
DOI：
10.1016/j.bbrc.2015.01.157
发表时间：
2015-03-13
影响因子：
3.1
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
Pronicka, Ewa
影响因子：
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作者：
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通讯作者：
Sotgiu, Stefano
影响因子：
9.8
作者：
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通讯作者：
Elpeleg, Orly