Mitochondrial respiratory chain deficiency revealed by hypothermia
Mitochondrial respiratory chain deficiency revealed by hypothermia
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DOI：
10.1055/s-2001-13878
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发表时间：
2001-04-01
期刊：
影响因子：
1.4
通讯作者：
Tardieu, M
中科院分区：
文献类型：
--
作者：
Cholley, F;Edery, P;Tardieu, M
我们观察了一个17个月大的女孩，她有严重的和最初孤立的低体温发作。此后，她出现了生长迟缓，重复性角膜和骨骼病变。血浆和脑脊液中持续的高乳酸血症促使我们研究呼吸链酶。通过分光光度法和极谱法研究表明，在分离的骨骼肌线粒体、循环淋巴细胞和成纤维细胞中存在呼吸链复合物III和IV的缺陷。UCP3 mRNA在肌肉中的表达降低。
We observed a 17-month-old girl with profound and initially isolated episodes of hypothermia. Thereafter, she developed growth delay, repetitive corneal and bone lesions. Persistent hyperlactataemia in plasma and in CSF prompted us to investigate respiratory chain enzymes. A deficit in respiratory chain complexes III and IV was demonstrated in isolated skeletal muscle mitochondria, circulating lymphocytes and fibroblasts by spectrophotometric and polarographic studies. Moreover, UCP3 mRNA expression in muscle was decreased.