SDHC mutations in hereditary paraganglioma/pheochromocytoma.
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.
Müller
Ulrich
U
Ulrich Müller, Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Schlangenzahl 14, Germany. Ulrich.Mueller@humangenetik.med.uni-giessen.de
Troidl
Christian
C
Niemann
Stephan
S
D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000503:physiopathology*; D002471:Cell Transformation, Neoplastic; D004252:DNA Mutational Analysis; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000502:physiology; D010235:Paraganglioma / Q000235:genetics* / Q000503:physiopathology*; D010673:Pheochromocytoma / Q000235:genetics* / Q000503:physiopathology*
D008565:Membrane Proteins; C108096:SDHC protein, human