Abstract
Mutations in genes coding for three of the four components of mitochondrial complex II can cause paragangliomas (PGLs)/pheochromocytomas. The three genes include SDHB, -C, and -D. SDHC and SDHD anchor the catalytic subunits SDHA and -B of mitochondrial complex II in the inner mitochondrial membrane. SDHD is maternally imprinted but SDHB and -C are not. While SDHD and – to a lesser degree – SDHB mutations have been found in many cases of hereditary PGL, SDHC mutations are rare. This article reviews the SDHC mutations described to date and discusses possible mechanisms of tumorigenesis.
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Abbreviations
- PGL:
-
paraganglioma
- SDHA:
-
flavoprotein subunit of mitochondrial complex II
- SDHB:
-
iron–sulfur protein subunit of mitochondrial complex II
- SDHC:
-
large subunit of cytochrome b of mitochondrial complex II
- SDHD:
-
small subunit of cytochrome b of mitochondrial complex II
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Müller, U., Troidl, C. & Niemann, S. SDHC mutations in hereditary paraganglioma/pheochromocytoma. Familial Cancer 4, 9–12 (2005). https://doi.org/10.1007/s10689-004-0621-1
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DOI: https://doi.org/10.1007/s10689-004-0621-1