Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
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DOI：
10.1002/ana.20282
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发表时间：
2004-11-01
影响因子：
11.2
通讯作者：
Elpeleg, O
中科院分区：
文献类型：
--
作者：
Miller, C;Saada, A;Elpeleg, O
线粒体呼吸链包含85个亚基，其中13个是线粒体编码的。这13种蛋白质的合成需要许多参与线粒体DNA复制、转录产物和独特的线粒体翻译装置的核编码蛋白质。我们报告一例胼胝体发育不全、畸形和致命的新生儿乳酸性酸中毒患者，其肌肉和肝脏中复合物I和IV活性显著降低，脉冲标记实验中发现了广义线粒体翻译缺陷。该缺陷与12S rRNA转录水平的显著降低相关，可能归因于MRPS16基因中的无义突变。提出了一组新的线粒体呼吸链疾病，由线粒体翻译装置的核编码组分突变引起。
The mitochondrial respiratory chain comprises 85 subunits, 13 of which are mitochondrial encoded. The synthesis of these 13 proteins requires many nuclear-encoded proteins that participate in mitochondrial DNA replication, transcript production, and a distinctive mitochondrial translation apparatus. We report a patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis with markedly decreased complex I and IV activity in muscle and liver and a generalized mitochondrial translation defect identified in pulse-label experiments. The defect was associated with marked reduction of the 12S rRNA transcript level likely attributed to a nonsense mutation in the MRPS16 gene. A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus.