Abstract
Mutations in VHL, RET, NF1, SDHB, SDHC, and SDHD can give rise to pheochromocytoma/paraganglioma. These different genetic lesions may all act by decreasing the activity of a 2-oxoglutarate-dependent oxygenase, SM-20/EglN3/PHD3, resulting in reduced apoptosis of neural crest cells during development.
Publication types
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Comment
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Research Support, Non-U.S. Gov't
MeSH terms
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Adrenal Gland Neoplasms / enzymology*
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Adrenal Gland Neoplasms / genetics*
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Apoptosis
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Dioxygenases
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Down-Regulation
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Gene Expression Regulation, Neoplastic
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Genetic Predisposition to Disease
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Humans
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Hypoxia-Inducible Factor-Proline Dioxygenases
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Mutation
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Pheochromocytoma / enzymology*
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Pheochromocytoma / genetics*
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Procollagen-Proline Dioxygenase / genetics
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Procollagen-Proline Dioxygenase / metabolism*
Substances
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Dioxygenases
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Procollagen-Proline Dioxygenase
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EGLN3 protein, human
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Hypoxia-Inducible Factor-Proline Dioxygenases