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      Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

      Science (New York, N.Y.)

      Alleles, Amino Acid Sequence, Carotid Body, metabolism, Carotid Body Tumor, genetics, Chromosomes, Human, Pair 11, Cytochrome b Group, chemistry, Electron Transport Complex II, Genetic Linkage, Genomic Imprinting, Germ-Line Mutation, Haplotypes, Heterozygote, Humans, Loss of Heterozygosity, Mitochondria, Molecular Sequence Data, Multienzyme Complexes, Mutation, Missense, Oxidoreductases, Paraganglioma, Polymorphism, Single-Stranded Conformational, Succinate Dehydrogenase

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          Abstract

          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.

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          10657297

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