魁北克萨格奈-圣让湖区一种生物化学特性不同的细胞色素氧化酶（COX）缺乏症。
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.
作者信息
Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R, Gagné R, Robinson B H
机构信息
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Am J Hum Genet. 1993 Aug;53(2):481-7.
We report the results of biochemical and molecular investigations on a group of patients from the Saguenay-Lac-Saint-Jean region of Quebec who have an unusual form of cytochrome oxidase deficiency and Leigh disease. This group can be distinguished from the classical presentation of cytochrome oxidase deficiency with Leigh disease, by the severity of the biochemical defect in different tissues. The activity in skin fibroblasts, amniocytes, and skeletal muscle of cytochrome oxidase is 50% of normal, while in kidney and heart it is close to normal values. Brain and liver, on the other hand, have very low activities. The defect in activity appears to result from a failure of assembly of the cytochrome oxidase complex in liver, but levels of mRNA for both mitochondrially encoded and nuclear-encoded subunits in liver and skin fibroblasts were found to be the same as those in controls. The cDNA sequence of the liver-specific cytochrome oxidase subunits VIa and VIIa were determined in samples from patient liver and skin fibroblasts and showed normal coding sequence.
我们报告了对来自魁北克萨格奈-圣让湖地区的一组患者进行的生化和分子研究结果，这些患者患有一种不寻常形式的细胞色素氧化酶缺乏症和 Leigh 病。通过不同组织中生化缺陷的严重程度，该组患者可与细胞色素氧化酶缺乏症合并 Leigh 病的经典表现相区分。皮肤成纤维细胞、羊膜细胞和骨骼肌中细胞色素氧化酶的活性为正常的 50%，而肾脏和心脏中的活性接近正常水平。另一方面，脑和肝脏的活性非常低。活性缺陷似乎是由于肝脏中细胞色素氧化酶复合物组装失败所致，但肝脏和皮肤成纤维细胞中线粒体编码和核编码亚基的 mRNA 水平与对照组相同。在患者肝脏和皮肤成纤维细胞的样本中测定了肝脏特异性细胞色素氧化酶亚基 VIa 和 VIIa 的 cDNA 序列，显示编码序列正常。
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