Carotid Body Tumors in Humans Caused by a Mutation in the Gene for Succinate Dehydrogenase D (SDHD)
Tumors of the carotid bodies (CB) are commonly associated with chronic tissue hypoxia from altitude, cyanotic heart disease and chronic pulmonary disease.1, 2, 3, 4, 5 Here, we describe a hereditary form of carotid body tumors, which is not related to exposure to chronic hypoxia but is related to a missense mutation in the gene that encodes for succinate dehydrogenase D (SDHD). SDHD is a small part of cytochrome b588 of the mitochondrial respiratory chain complex II and an essential enzyme in the Krebs tricarboxylic-acid cycle.6 These carotid body tumors are part of the hereditary paraganglioma type I (PGL1) syndrome.7 The PGL1 syndrome is characterized by slowly growing tumors derived from paraganglia in the head and neck area (see Fig. 1) and (Fig. 2, color insert). Paraganglia are cell-clusters of neuro-ectodermal origin that have a close relationship with the autonomic nervous system and have the ability to synthesize catecholamines (e.g., dopamine). The most common PGL tumor locations are the carotid bodies and the adrenal medulla. Other paraganglia which may be affected are: the vagal bodies at the nodose ganglion of the vagal nerve, the tympanic bodies at the promontory of the middle ear, the jugular bodies at the jugular foramen, the laryngeal bodies in the larynx, and the aortic bodies in the wall of the ascending aorta and aortic arch.
KeywordsCarotid Body Uterine Fibroid Glomus Tumor Fumarate Hydratase Nodose Ganglion
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