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HHH综合征患者成纤维细胞线粒体的超微结构变化

Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.

作者信息

Metoki K, Hommes F A, Dyken P, Kelloes C, Trefz J

出版信息

J Inherit Metab Dis. 1984;7(4):147-50. doi: 10.1007/BF01805595.

DOI:10.1007/BF01805595
PMID:6441860
Abstract

Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting in unusual structures.

摘要

HHH综合征患者成纤维细胞的电子显微镜图像显示出异常结构，与这类患者肝脏中观察到的结构相似但不完全相同。有人提出，一种突变蛋白掺入线粒体内膜会导致该膜的重排，从而产生异常结构。

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本文引用的文献

1
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study.一例非甲状腺源性严重高代谢伴线粒体呼吸控制维持缺陷：一项临床、生化及形态学相关性研究。
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Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity.线粒体肌病。生化研究显示NADH - 细胞色素b还原酶活性缺乏。
J Neurol Sci. 1981 Apr;50(1):1-13. doi: 10.1016/0022-510x(81)90038-1.
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Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria.
Hum Pathol. 1981 Mar;12(3):212-22. doi: 10.1016/s0046-8177(81)80121-9.
4
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Clin Chim Acta. 1982 Feb 5;118(2-3):149-57. doi: 10.1016/0009-8981(82)90002-x.
5
Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.鸟氨酸跨线粒体内膜转运减少作为高鸟氨酸血症的一个病因。
J Inherit Metab Dis. 1982;5(1):41-7. doi: 10.1007/BF01799753.
6
Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
J Inherit Metab Dis. 1981;4(2):95-6. doi: 10.1007/BF02263608.
7
The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient.
J Inherit Metab Dis. 1984;7(1):9-11. doi: 10.1007/BF01805611.
8
Mitochondrial myopathies. Clinical, morphological and biochemical aspects.线粒体肌病。临床、形态学及生化方面
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Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.伴有肌肉细胞色素aa3缺陷的进行性脊髓灰质炎样肌萎缩（阿尔珀斯病）：两例非亲缘关系患者的报告
Clin Neurol Neurosurg. 1983;85(1):57-70. doi: 10.1016/0303-8467(83)90024-0.
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Neurology. 1980 Aug;30(8):795-804. doi: 10.1212/wnl.30.8.795.