Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
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DOI：
10.1126/science.287.5454.848
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发表时间：
2000-02-04
期刊：
影响因子：
56.9
通讯作者：
Devlin, B
中科院分区：
文献类型：
--
作者：
Baysal, BE;Ferrell, RE;Devlin, B
遗传性副神经节瘤（PGL）的特征是在头颈部形成良性的、有血管分布的肿瘤。最常见的肿瘤部位是颈动脉体（CB），它是一种能感知血液中氧含量的化学感受器。对携带此处所描述的PGL1基因的家族进行分析后，发现11q23号染色体上的SDHD基因存在种系突变。SDHD编码一种线粒体呼吸链蛋白——琥珀酸 - 泛醌氧化还原酶（cybS）中细胞色素b的小亚基。与基于PGL遗传模式的预期相反，SDHD基因没有显示出印记的证据。这些发现表明线粒体在某些肿瘤的发病机制中起重要作用，并且cybS在正常颈动脉体生理过程中起作用。
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen Levels in the blood. Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain protein-the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting. These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.